Williams Syndrome 06 (251-329)

Record 251 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Neurologic findings in children and adults with Williams syndrome.

AUTHOR(S): Chapman-CA; du-Plessis-A; Pober-BR

ADDRESS OF AUTHOR: Department of Neurology, Children's Hospitaland Harvard Medical School, Bosto

SOURCE (BIBLIOGRAPHIC CITATION): J-Child-Neurol. 1996 Jan; 11(1): 63-5

INTERNATIONAL STANDARD SERIAL NUMBER: 0883-0738

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Twenty-four children with Williams syndrome underwent systematic neurologic evaluations. Abnormalities of mental status, motor coordination, tone, and gait were most prevalent. Tone abnormalities varied as a function of age, with younger children frequently exhibiting decreased tone and older subjects almost exclusively having increased tone. The gait and coordination abnormalities persisted among older subjects, indicating that they were not simply maturational problems. Physicians caring for such youngsters need to be aware that a variety of neurologic abnormalities are common in Williams syndrome and may change or progress over time. Neurologic examinations that reveal findings beyond the typical pattern that we report may raise suspicion for added neurologic insult and warrant further investigation.

MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Cognition-Disorders-complications; Cognition-Disorders-diagnosis; Extremities-physiopathology; Muscle-Tonus; Williams-Syndrome-complications; Williams-Syndrome-physiopathology

MAJOR MeSH HEADINGS: *Neurologic-Examination; *Williams-Syndrome-diagnosis

CHECKTAGS: Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96308781

UPDATE CODE: 199612

Record 252 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Genetics of hereditary cardiopathies]

ORIGINAL TITLE: Genetique des cardiopathies hereditaires.

AUTHOR(S): Debrus-S; de-Meeus-A; Jean-MK; Bouvagnet-P

ADDRESS OF AUTHOR: CRBM, CNRS UPR 9008 et INSERM U249, Montpellier.

SOURCE (BIBLIOGRAPHIC CITATION): Arch-Mal-Coeur-Vaiss. 1996 May; 89(5): 619-27

INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9683

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH

COUNTRY OF PUBLICATION: FRANCE

ABSTRACT: Hypertrophic cardiomyopathy may be secondary to a mutation in the cardiac beta myosin heavy chain (14q11-q12), alpha tropomyosin (15q22), troponin T (1q32), protein C gene (11p11-q13) or in a non yet mapped gene. A X-linked dilated cardiomyopathy may be due to a mutation in the dystrophin gene (Xp21). The long QT syndrome may be secondary to a mutation in a potassium channel (7q35-36), an alpha subunit of the sodium channel gene (3p21) or in genes not yet identified (11p15.5, 4q25-q27). Marfan syndrome is associated to mutations in the fibrillin 1 gene (15q21.1) and a Marfan-like syndrome with not ocular anomalies was mapped to 3p24. Patients with Williams-Beuren syndrome have microdeletions in 7q11, whereas in the supravalvular aortic stenosis, the elastin gene which maps to the same region, is mutated. In Di George and Shprintzen syndromes but not in conotruncal malformations, microdeletions in 22q11 are observed. Heterotaxia can be transmitted by 3 types of mendelian inheritance (Xq24-q27.1). Finally, other diseases were mapped: Noonan and Holt-Oram syndromes (12q), isolated conduction blocks (19q13.3), arrhythmogenic right ventricular cardiomyopathy (14q23-q24), total anomalous pulmonary venous return (4p13-q12) and Osler-Weber-Rendu (9q33-q34.1, 3p22 and 12q1). In the near future, these incoming data will deeply modify the cardiovascular field.

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Cardiomyopathy,-Hypertrophic-diagnosis; Cardiomyopathy,-Hypertrophic-genetics; Chromosome-Aberrations; Chromosome-Mapping; Down-Syndrome-diagnosis; Down-Syndrome-genetics; English-Abstract; Genetic-Markers; Genetic-Screening; Heart-Diseases-diagnosis; Long-QT-Syndrome-diagnosis; Long-QT-Syndrome-genetics; Marfan-Syndrome-diagnosis; Marfan-Syndrome-genetics; Mutation-genetics; Prognosis-; Risk-Factors; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Heart-Diseases-genetics

CHECKTAGS: English-Abstract; Human

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: Genetic-Markers

MEDLINE ACCESSION NUMBER: 96332730

UPDATE CODE: 199611

Record 253 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome.

AUTHOR(S): Pankau-R; Partsch-CJ; Winter-M; Gosch-A; Wessel-A

ADDRESS OF AUTHOR: Department of Pediatrics, University of Kiel, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1996 May 3; 63(1): 301-4

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Kidneys and urinary tract were examined systematically by ultrasonography in 130 patients with Williams-Beuren syndrome (59 females, median age 5.5 years; 71 males, median age 6.4 years). In addition, serum creatinine was determined and an analysis was performed. Creatinine clearance was available in 79 patients. Renal angiographic examinations were done in 18 patients, 8 of whom had renal artery narrowing (44%). The incidence of renal anomalies in Williams-Beuren syndrome was 17.7% vs. around 1.5% in the normal population (P < 0.0003). The spectrum of these anomalies ranged from minor anomalies such as bladder diverticula to more severe malformations such as renal aplasia or hypoplasia (in 5 of 130 patients). In nine patients a duplicated kidney was found. A decreased creatinine clearance (two patients), recurrent symptomatic urinary tract infections (four patients), and hypertension were uncommon. Nephrocalcinosis was not found in our patients. Our data demonstrate that the risk of a structural abnormality of the kidneys and the urinary tract is increased 12- to 36-fold in Williams-Beuren syndrome compared to the normal population. Ultrasound screening of the renal system should be part of the first evaluation of WBS patients.

MINOR MESH HEADINGS: Abnormalities-classification; Adolescence-; Adult-; Bladder-abnormalities; Child-; Child,-Preschool; Incidence-; Infant-; Middle-Age; Renal-Artery-abnormalities; Retrospective-Studies

MAJOR MeSH HEADINGS: *Abnormalities-epidemiology; *Kidney-abnormalities; *Williams-Syndrome-physiopathology

CHECKTAGS: Comparative-Study; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96298289

UPDATE CODE: 199611

Record 254 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Familial supravalvular aortic stenosis: a report of two brothers.

AUTHOR(S): Wu-JR; Chen-YH; Huang-TY

ADDRESS OF AUTHOR: Department of Pediatrics, Kaohsiung Medical College, Taiwan, Republic of China.

SOURCE (BIBLIOGRAPHIC CITATION): Kao-Hsiung-I-Hsueh-Ko-Hsueh-Tsa-Chih. 1996 Feb; 12(2): 128-31

INTERNATIONAL STANDARD SERIAL NUMBER: 0257-5655

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: TAIWAN

ABSTRACT: We studied two brothers in a family with isolated congenital supravalvular aortic stenosis without Williams syndrome. Clinical, echocardiographic, hemodynamic and angiographic features of our cases were described. A severe long, narrowed supravalvular aortic stenosis involving the ascending aorta with proximal narrowing of the aortic branches and mild aortic insufficiency were found. To the best of our knowledge, this is the first report of this combination of lesions in the Orient.

MINOR MESH HEADINGS: Aortic-Valve-Stenosis-pathology; Child,-Preschool

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-genetics

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96308657

UPDATE CODE: 199611

SUBSET: DENTAL

Record 255 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved.

AUTHOR(S): Mammi-I; Iles-DE; Smeets-D; Clementi-M; Tenconi-R

ADDRESS OF AUTHOR: Department of Pediatrics, University of Padua, Italy.

SOURCE (BIBLIOGRAPHIC CITATION): Hum-Genet. 1996 Sep; 98(3): 317-20

INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6717

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: GERMANY

ABSTRACT: We present the case of a patient affected with Williams syndrome (WS), who developed a suspected malignant hyperthermia (MH) reaction to general anesthesia. The proximity to the WS region of the gene encoding the L-type voltage-gated calcium channel alpha 2/delta-subunit (CACNL2A) on 7q11.23-q21.1, previously shown to be closely linked to some forms of MH susceptibility, prompted us to investigate whether this gene is deleted in WS. Linkage studies and fluorescence in situ hybridization analysis demonstrated that the CACNL2A locus is localized outside the WS deleted region.

MINOR MESH HEADINGS: Adolescence-; Chromosome-Deletion; Chromosomes,-Human,-Pair-7; Heterozygote-; Homeostasis-; In-Situ-Hybridization,-Fluorescence; Malignant-Hyperthermia-genetics; Williams-Syndrome-complications

MAJOR MeSH HEADINGS: *Anesthesia-adverse-effects; *Calcium-Channels-genetics; *Malignant-Hyperthermia-etiology; *Williams-Syndrome-genetics

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: Calcium-Channels

MEDLINE ACCESSION NUMBER: 96328299

UPDATE CODE: 199611

Record 256 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Prognosis of supravalve aortic stenosis in 81 patients in Liverpool (1960-1993).

AUTHOR(S): Kitchiner-D; Jackson-M; Walsh-K; Peart-I; Arnold-R

ADDRESS OF AUTHOR: Cardiac Unit, Royal Liverpool Children's NHS Trust.

SOURCE (BIBLIOGRAPHIC CITATION): Heart. 1996 Apr; 75(4): 396-402

INTERNATIONAL STANDARD SERIAL NUMBER: 1355-6037

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: OBJECTIVE: To determine the prognosis of supravalve aortic stenosis into early adult life and the factors affecting this prognosis. DESIGN: 81 patients with supravalve aortic stenosis were followed for a median duration of 8.3 (range 1 to 29) years. PATIENTS: 40 patients (49.4%) had Williams' syndrome, 18 (22.2%) familial supravalve aortic stenosis, 18 (22.2%) sporadic supravalve aortic stenosis, and five (6.2%) other syndromes. Nineteen patients had additional levels of left ventricular outflow tract obstruction. RESULTS: 47 patients (58%) underwent operation; 20% within a year of presentation. Multivariable analysis predicted that 88% of patients would undergo intervention within 30 years of follow up. The chance of intervention was increased by more severe aortic stenosis at presentation and the presence of multilevel obstruction in patients with sporadic supravalve aortic stenosis. Three deaths occurred before operation and 13 within a month of operation. Ten (62.5%) of the postoperative deaths were in patients with multilevel obstruction. Predicted survival 30 years after presentation was 66%. Risk factors for survival were age and severity of aortic stenosis at presentation. Multilevel obstruction did not emerge as a significant risk factor for death because of the high association with the severity of stenosis at presentation. 74% of survivors had mild or insignificant stenosis at follow up. CONCLUSIONS: Long-term survival is related to age and the severity of aortic stenosis at presentation. Most patients will require intervention, and most survivors will have mild stenosis.

MINOR MESH HEADINGS: Aortic-Valve-Stenosis-genetics; Aortic-Valve-Stenosis-mortality; Child-; Child,-Preschool; England-epidemiology; Infant-; Infant,-Newborn; Multivariate-Analysis; Prognosis-; Survival-Rate; Williams-Syndrome-mortality; Williams-Syndrome-surgery

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-surgery

CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96255935

UPDATE CODE: 199611

SUBSET: AIM

Record 257 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.

AUTHOR(S): Frangiskakis-JM; Ewart-AK; Morris-CA; Mervis-CB; Bertrand-J; Robinson-BF; Klein-BP; Ensing-GJ; Everett-LA; Green-ED; Proschel-C; Gutowski-NJ; Noble-M; Atkinson-DL; Odelberg-SJ; Keating-MT

ADDRESS OF AUTHOR: Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Cell. 1996 Jul 12; 86(1): 59-69

INTERNATIONAL STANDARD SERIAL NUMBER: 0092-8674

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: To identify genes important for human cognitive development, we studied Williams syndrome (WS), a developmental disorder that includes poor visuospatial constructive cognition. Here we describe two families with a partial WS phenotype; affected members have the specific WS cognitive profile and vascular disease, but lack other WS features. Submicroscopic chromosome 7q11.23 deletions cosegregate with this phenotype in both families. DNA sequence analyses of the region affected by the smallest deletion (83.6 kb) revealed two genes, elastin (ELN) and LIM-kinase1 (LIMK1). The latter encodes a novel protein kinase with LIM domains and is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition.

MINOR MESH HEADINGS: Base-Sequence; Blotting,-Northern; Brain-embryology; Brain-growth-and-development; Brain-physiology; Chromosome-Aberrations; Chromosomes,-Human,-Pair-7-genetics; Elastin-genetics; Gene-Deletion; Gene-Expression-Regulation,-Developmental-physiology; In-Situ-Hybridization,-Fluorescence; Molecular-Sequence-Data; Phenotype-; Protein-Kinases-genetics; Sequence-Analysis,-DNA; Zinc-Fingers-genetics

MAJOR MeSH HEADINGS: *Cognition-physiology; *DNA-Binding-Proteins-genetics; *Protein-Serine-Threonine-Kinases-genetics; *Visual-Perception-genetics; *Williams-Syndrome-genetics

CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: R01HD29957HDNICHD; R01HL4807HLNHLBI; R01NS35102NSNINDS

CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.1.37; EC 2.7.10; 0; 0; 9007-58-3

NAME OF SUBSTANCE: Protein-Kinases; Protein-Serine-Threonine-Kinases; DNA-Binding-Proteins; Kiz-1-protein; Elastin

MEDLINE ACCESSION NUMBER: 96291399

UPDATE CODE: 199610

SECONDARY SOURCE IDENTIFIER: GENBANK/U62292; GENBANK/U62293

Record 258 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: LIM-kinase deleted in Williams syndrome [letter]

AUTHOR(S): Tassabehji-M; Metcalfe-K; Fergusson-WD; Carette-MJ; Dore-JK; Donnai-D; Read-AP; Proschel-C; Gutowski-NJ; Mao-X; Sheer-D

SOURCE (BIBLIOGRAPHIC CITATION): Nat-Genet. 1996 Jul; 13(3): 272-3

INTERNATIONAL STANDARD SERIAL NUMBER: 1061-4036

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Chromosomes,-Human,-Pair-7; DNA-Binding-Proteins-biosynthesis; DNA-Binding-Proteins-genetics; In-Situ-Hybridization,-Fluorescence; Mice-; Protein-Serine-Threonine-Kinases-biosynthesis; Protein-Serine-Threonine-Kinases-genetics; Sequence-Homology,-Amino-Acid

MAJOR MeSH HEADINGS: *Gene-Deletion; *Protein-Kinases-genetics; *Williams-Syndrome-genetics

CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't

PUBLICATION TYPE: LETTER

CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.1.-; EC 2.7.1.37; EC 2.7.10; 0; 0

NAME OF SUBSTANCE: LIM-kinase; Protein-Kinases; Protein-Serine-Threonine-Kinases; DNA-Binding-Proteins; Kiz-1-protein

MEDLINE ACCESSION NUMBER: 96259553

UPDATE CODE: 199610

Record 259 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

AUTHOR(S): Brewer-CM; Morrison-N; Tolmie-JL

ADDRESS OF AUTHOR: Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow.

SOURCE (BIBLIOGRAPHIC CITATION): Arch-Dis-Child. 1996 Jan; 74(1): 59-61

INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9888

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: Sixteen children and adolescents with a firm clinical diagnosis of Williams syndrome were investigated with the chromosome fluorescence in situ hybridisation (FISH) technique employing the elastin gene probe. In each case there was a fluorescent signal on one chromosome 7 homologue only, indicating elastin gene deletion. No deletion was demonstrated in another child in whom an earlier diagnosis of Williams syndrome was judged doubtful at review. Firm clinical diagnosis correlates with elastin gene deletion in 16/16 cases of Williams syndrome and detection of such hemizygosity by FISH constitutes a useful confirmatory diagnostic test.

MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Facies-; Genetic-Markers; Infant-; Williams-Syndrome-genetics

MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7-genetics; *Elastin-genetics; *Gene-Deletion; *In-Situ-Hybridization,-Fluorescence; *Williams-Syndrome-diagnosis

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3

NAME OF SUBSTANCE: Genetic-Markers; Elastin

MEDLINE ACCESSION NUMBER: 96264357

UPDATE CODE: 199610

SUBSET: AIM

Record 260 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Temperament in Williams syndrome.

AUTHOR(S): Plissart-L; Borghgraef-M; Fryns-JP

ADDRESS OF AUTHOR: Center for Human Genetics, University of Leuven.

SOURCE (BIBLIOGRAPHIC CITATION): Genet-Couns. 1996; 7(1): 41-6

INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: SWITZERLAND

ABSTRACT: In this study we evaluated the temperament characteristics of a group of 13 subjects with Williams-Beuren syndrome (WBS) and compared the results to the findings in a control group of 13 individuals with the same degree of mental retardation of different etiology. On the different subscales of the Dutch adaptation of the Parent Temperament Questionnaire no statistically significant differences between the WBS and the control group were noted. An easier temperament was noted in the control group, and we also found greater intensity, less persistence and lower treshold in WBS subjects. The present findings indicate that the "specific" behavioural phenotype in WBS patients is apparently more related to mental retardation itself than to the underlying genetic defect. Further studies on a large group of WBS patients and mentally retarded control group are needed to confirm these findings.

MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child-Behavior-Disorders-diagnosis; Child-Behavior-Disorders-genetics; Child-Behavior-Disorders-psychology; Mental-Retardation-diagnosis; Mental-Retardation-genetics; Mental-Retardation-psychology; Middle-Age; Personality-Assessment; Phenotype-; Reference-Values; Williams-Syndrome-diagnosis; Williams-Syndrome-psychology

MAJOR MeSH HEADINGS: *Temperament-; *Williams-Syndrome-genetics

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96250399

UPDATE CODE: 199610

Record 261 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion [letter]

AUTHOR(S): Peoples-R; Perez-Jurado-L; Wang-YK; Kaplan-P; Francke-U

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1996 Jun; 58(6): 1370-3

INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Chromosome-Mapping; DNA-Replication; Gene-Deletion; Pedigree-; Polymerase-Chain-Reaction

MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *DNA-Binding-Proteins-genetics; *Williams-Syndrome-genetics

CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: LETTER

CONTRACT OR GRANT NUMBERS: RO1HG00298HGNHGRI; GM08404GMNIGMS

CAS REGISTRY NUMBER OR EC NUMBER: 0; 0

NAME OF SUBSTANCE: activator-1-protein; DNA-Binding-Proteins

MEDLINE ACCESSION NUMBER: 96213773

UPDATE CODE: 199609

Record 262 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Dental enamel hypoplasia apropos of a case]

ORIGINAL TITLE: A zomanchypoplasiarol egy eset kapcsan.

AUTHOR(S): Alberth-M; Dicsoffy-Z; Keszthelyi-G

ADDRESS OF AUTHOR: Debreceni Orvostudomanyi Egyetem, Stomatologiai Klinika, Debrecen.

SOURCE (BIBLIOGRAPHIC CITATION): Fogorv-Sz. 1996 Mar; 89(3): 85-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0015-5314

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: HUNGARIAN; NON-ENGLISH

COUNTRY OF PUBLICATION: HUNGARY

ABSTRACT: The developmental anomalies of dental hard tissues are relatively common in children. These anomalies can involve separately the enamel and they are due to many factors acting during odontogenesis. The paper deals with the main ethological factors and describes a case of idiopathic hypercalcemia. It is normally accompanied by aortic stenosis, mental retardation and a characteristic elfin face. This is called Williams syndrome. In this case we only found enamel hypoplasia on the cusps of the first molars.

MINOR MESH HEADINGS: Abnormalities,-Multiple; Adolescence-; Dental-Enamel-Hypoplasia-therapy; English-Abstract; Glucocorticoids-therapeutic-use; Molar-abnormalities; Vitamin-D-adverse-effects

MAJOR MeSH HEADINGS: *Dental-Enamel-Hypoplasia-etiology; *Williams-Syndrome-complications

CHECKTAGS: Case-Report; English-Abstract; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0; 1406-16-2

NAME OF SUBSTANCE: Glucocorticoids; Vitamin-D

MEDLINE ACCESSION NUMBER: 96218621

UPDATE CODE: 199608

SUBSET: DENTAL

Record 263 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Surgical treatment of diffuse supravalvular aortic stenosis.

AUTHOR(S): Folliguet-TA; Mace-L; Dervanian-P; Casasoprana-A; Magnier-S; Neveux-JY

ADDRESS OF AUTHOR: Department of Cardio-Vascular and Pediatric Cardiac Surgery, Centre Chirurgical Marie-Lannelongue, Le Plessis Robinson, France.

SOURCE (BIBLIOGRAPHIC CITATION): Ann-Thorac-Surg. 1996 Apr; 61(4): 1251-3

INTERNATIONAL STANDARD SERIAL NUMBER: 0003-4975

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Diffuse supravalvular aortic stenosis can be treated by a variety of surgical approaches. In this case of severe diffuse supravalvular aortic stenosis in a child, we used the combination of an apicoaortic conduit followed 6 years later by aortic valve replacement, replacement of the ascending aorta and aortic arch, and an ascending to thoracic descending aorta bypass graft.

MINOR MESH HEADINGS: Adolescence-; Aorta,-Thoracic-surgery; Aortic-Valve; Blood-Vessel-Prosthesis; Heart-Valve-Prosthesis; Polyethylene-Terephthalates; Reoperation-methods; Williams-Syndrome-diagnosis

MAJOR MeSH HEADINGS: *Williams-Syndrome-surgery

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: Polyethylene-Terephthalates

MEDLINE ACCESSION NUMBER: 96182226

UPDATE CODE: 199607

SUBSET: AIM

Record 264 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Stroke in Williams syndrome.

AUTHOR(S): Wollack-JB; Kaifer-M; LaMonte-MP; Rothman-M

ADDRESS OF AUTHOR: Department of Pediatrics, University of Maryland School of Medicine (Baltimore) 21201-1595, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Stroke. 1996 Jan; 27(1): 143-6

INTERNATIONAL STANDARD SERIAL NUMBER: 0039-2499

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: BACKGROUND: Williams syndrome is a genetic disorder characterized by a high incidence of heart disease, arterial stenosis, and hypertension. Despite these features, cerebrovascular accidents have been described only recently and only in association with stenoses of the cerebral vasculature. CASE DESCRIPTION: A 19-year-old girl with Williams syndrome developed an acute-onset hemiparesis. MRI demonstrated an infarct involving the internal capsule and putamen. No stenotic areas were seen on angiography. CONCLUSIONS: Stroke should be considered as a possible consequence of Williams syndrome, even in the absence of stenoses of the cerebral vasculature. Comparison of this case with those previously reported in the literature emphasizes the multiplicity of features in Williams syndrome that can contribute to the risk of stroke.

MINOR MESH HEADINGS: Adult-; Cerebral-Angiography; Cerebral-Infarction-etiology; Hemiplegia-etiology; Magnetic-Resonance-Imaging; Putamen-pathology; Williams-Syndrome-genetics

MAJOR MeSH HEADINGS: *Cerebrovascular-Disorders-etiology; *Williams-Syndrome-complications

CHECKTAGS: Case-Report; Comparative-Study; Female; Human; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES

CONTRACT OR GRANT NUMBERS: NS01514NSNINDS

MEDLINE ACCESSION NUMBER: 96136261

UPDATE CODE: 199604

Record 265 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Cytogenetic testing for Williams syndrome.

AUTHOR(S): Jalal-SM; Crifasi-PA; Karnes-PS; Michels-VV

ADDRESS OF AUTHOR: Division of Laboratory Genetics, Mayo Clinic, Rochester, MN 55905, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Mayo-Clin-Proc. 1996 Jan; 71(1): 67-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0025-6196

PUBLICATION YEAR: 1996

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Chromosome-Aberrations-genetics; DNA-Probes; In-Situ-Hybridization,-Fluorescence

MAJOR MeSH HEADINGS: *Williams-Syndrome-diagnosis; *Williams-Syndrome-genetics

CHECKTAGS: Human

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: DNA-Probes

MEDLINE ACCESSION NUMBER: 96133647

UPDATE CODE: 199604

SUBSET: AIM

Record 266 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Williams syndrome--a model of genetically determined right hemispheric dominance]

ORIGINAL TITLE: Sindrom Vil'iamsa--model' geneticheski determinrovannogo pravopolusharnogo dominirovaniia.

AUTHOR(S): Bogdanov-NN; Solonichenko-VG

ADDRESS OF AUTHOR: Institute of Higher Nervous Activity and Neurophysiology, Filatov Children's Hospital, Moscow.

SOURCE (BIBLIOGRAPHIC CITATION): Fiziol-Zh-Im-I-M-Sechenova. 1995 Aug; 81(8): 81-4

INTERNATIONAL STANDARD SERIAL NUMBER: 0869-8139

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: RUSSIAN; NON-ENGLISH

COUNTRY OF PUBLICATION: RUSSIA

ABSTRACT: Dermatoglyphic studies showed that children with the Williams syndrome had certain peculiarities of morphological as well as behavioral character. The findings suggest that the syndrome can be regarded as a genetical model of the right brain dominance.

MINOR MESH HEADINGS: Child-; Child,-Preschool; Dermatoglyphics-; English-Abstract; Genetic-Markers

MAJOR MeSH HEADINGS: *Dominance,-Cerebral-genetics; *Models,-Genetic; *Williams-Syndrome-genetics

CHECKTAGS: Comparative-Study; English-Abstract; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: Genetic-Markers

MEDLINE ACCESSION NUMBER: 96371605

UPDATE CODE: 199612

Record 267 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism.

AUTHOR(S): Hone-J; Accili-D; Psiachou-H; Alghband-Zadeh-J; Mitton-S; Wertheimer-E; Sinclair-L; Taylor-SI

ADDRESS OF AUTHOR: Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892-1770, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mutat. 1995; 6(1): 17-22

INTERNATIONAL STANDARD SERIAL NUMBER: 1059-7794

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Mutations in the insulin receptor gene can cause genetic syndromes associated with extreme insulin resistance. We have investigated a patient with leprechaunism (leprechaun/Qatar-1) born of a consanguineous marriage. Postnatally, the proband had episodes of severe hypoglycemia and hyperinsulinernia, with blood glucose levels ranging from 0.9 to 9.9 mmol/L. The C peptide concentration with 1880 nmol/L, and the total insulin concentration was 1409 mU/L. The patient died outside the hospital at the age of four months. All 22 exons of the patient's insulin receptor gene were screened for mutations using denaturing gradient gel electrophoresis. Thereafter, the nucleotide sequences of selected exons were determined directly. The patient was homozygous for a mutation in exon 13; thirteen base pairs were deleted and replaced by a 5 b.p. sequence. This mutation shifts the reading frame and introduces a premature chain termination codon downstream in exon 13. Thus, the mutant allele is predicted to be a null allele that encodes a truncated receptor lacking both transmembrane and tyrosine kinase domains.

MINOR MESH HEADINGS: Alleles-; Blood-Glucose-analysis; C-Peptide-analysis; Chromosome-Mapping; Hypoglycemia-genetics; Infant-; Molecular-Sequence-Data; Qatar-

MAJOR MeSH HEADINGS: *DNA-Mutational-Analysis; *Receptor,-Insulin-genetics; *Williams-Syndrome-genetics

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.11.-; 0; 0

NAME OF SUBSTANCE: Receptor,-Insulin; Blood-Glucose; C-Peptide

MEDLINE ACCESSION NUMBER: 96055512

UPDATE CODE: 199601

Record 268 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Multifocal intracranial occlusive vasculopathy resulting in stroke: an unusual manifestation of Williams syndrome.

AUTHOR(S): Putman-CM; Chaloupka-JC; Eklund-JE; Fulbright-RK

ADDRESS OF AUTHOR: Interventional Neuroradiology Service, Yale University School of Medicine, New Haven, Conn 06520-8042, USA.

SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1995 Aug; 16(7): 1536-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Child,-Preschool; Dominance,-Cerebral-physiology; Follow-Up-Studies; Neurologic-Examination

MAJOR MeSH HEADINGS: *Brain-Ischemia-diagnosis; *Cerebral-Angiography; *Cerebral-Infarction-diagnosis; *Magnetic-Resonance-Imaging; *Williams-Syndrome-diagnosis

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96029929

UPDATE CODE: 199602

Record 269 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome.

AUTHOR(S): Soper-R; Chaloupka-JC; Fayad-PB; Greally-JM; Shaywitz-BA; Awad-IA; Pober-BR

ADDRESS OF AUTHOR: Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.

SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1995 Jun; 126(6): 945-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: We describe an otherwise healthy 2-year-old patient with Williams syndrome who had a stroke as a result of intracranial multivessel focal and segmental stenotic disease. The diagnosis of Williams syndrome was confirmed by elastin gene deletion testing. Combined magnetic resonance imaging and magnetic resonance angiography, and transcranial Doppler flow studies, were used in diagnosing and monitoring the course of the disease.

MINOR MESH HEADINGS: Constriction,-Pathologic; Elastin-genetics; Gene-Deletion; Infant-; Infant,-Newborn; Magnetic-Resonance-Angiography; Magnetic-Resonance-Imaging; Ultrasonography,-Doppler,-Transcranial; Vascular-Diseases-diagnosis

MAJOR MeSH HEADINGS: *Brain-Ischemia-etiology; *Cerebral-Arterial-Diseases-etiology; *Vascular-Diseases-congenital; *Vascular-Diseases-complications

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3

NAME OF SUBSTANCE: Elastin

MEDLINE ACCESSION NUMBER: 95294710

UPDATE CODE: 199509

SUBSET: AIM

Record 270 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Cerebral artery stenoses in Williams syndrome cause strokes in childhood.

AUTHOR(S): Kaplan-P; Levinson-M; Kaplan-BS

ADDRESS OF AUTHOR: Children's Hospital of Philadelphia, PA 19104-4399, USA.

SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1995 Jun; 126(6): 943-5

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Extensive narrowing of lumens of many cerebral arteries caused strokes with brain damage and chronic hemipareses in two children with Williams syndrome. Increased irritability, loss of consciousness, and seizures were initial signs. Arterial stenoses are not limited to the supravalvular aorta and pulmonary arteries in patients with Williams syndrome.

MINOR MESH HEADINGS: Adult-; Aortic-Valve-Stenosis-congenital; Aortic-Valve-Stenosis-complications; Child,-Preschool; Constriction,-Pathologic; Vascular-Diseases-complications

MAJOR MeSH HEADINGS: *Cerebral-Arterial-Diseases-congenital; *Cerebral-Arterial-Diseases-complications; *Cerebrovascular-Disorders-etiology; *Vascular-Diseases-congenital

CHECKTAGS: Case-Report; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95294709

UPDATE CODE: 199509

SUBSET: AIM

Record 271 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Association of Chiari I malformation and Williams syndrome.

AUTHOR(S): Pober-BR; Filiano-JJ

ADDRESS OF AUTHOR: Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1995 Jan; 12(1): 84-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Two Williams syndrome patients are presented who had neurologic symptoms secondary to Chiari malformation type I. Both patients had many of the well-known medical problems found in Williams syndrome. In addition, Patient 1 developed headache, diplopia, and tinnitus at 26 years of age. Neurologic examination revealed intermittent nystagmus and brisk reflexes. Magnetic resonance imaging demonstrated Chiari malformation type I; neurologic symptoms abated following surgery. Patient 2 had a normal neurologic examination at 2 years of age except for hyperreflexia and tight heel cords. At age 10 years, she had generalized contractures, decreased strength and wasting of hand musculature, and hyperreflexia. Magnetic resonance imaging documented Chiari malformation type I. Both patients have significant dysphagia and fusion of cervical spine segments noted on radiography. Morphometric analyses of intracranial contents based on midsagittal magnetic resonance images were performed. This analysis suggests that, compared to age-matched controls, the posterior fossa size is selectively diminished in Williams syndrome, whereas the cerebellum is normal in size. This "mismatch" between the size of the posterior fossa bony compartment and its neural contents may place Williams syndrome patients at high risk for developing Chiari malformation type I.

MINOR MESH HEADINGS: Adolescence-; Adult-; Brain-pathology; Cephalometry-; Child-; Child,-Preschool; Facial-Bones-pathology; Follow-Up-Studies; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Neurologic-Examination; Skull-pathology; Spinal-Cord-pathology; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Arnold-Chiari-Malformation-diagnosis; *Facial-Bones-abnormalities; *Skull-abnormalities

CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: P30HD18655HDNICHD

MEDLINE ACCESSION NUMBER: 95267226

UPDATE CODE: 199508

Record 272 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: The Williams Syndrome Association 6th National/International Professional Conference. San Diego, California, 1994. Abstracts.

SOURCE (BIBLIOGRAPHIC CITATION): Genet-Couns. 1995; 6(2): 131-92

INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: SWITZERLAND

MAJOR MeSH HEADINGS: *Williams-Syndrome

CHECKTAGS: Animal; Human

PUBLICATION TYPE: CONGRESSES; OVERALL

MEDLINE ACCESSION NUMBER: 96039935

UPDATE CODE: 199601

Record 273 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Strabismus in Williams syndrome [letter; comment]

COMMENTS: Comment on: Am J Ophthalmol 1995 Mar;119(3):355-60

AUTHOR(S): Roy-FH

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Ophthalmol. 1995 Aug; 120(2): 266-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9394

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Face-abnormalities; Kidney-abnormalities; Syndrome-; Terminology-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Aortic-Valve-Stenosis-diagnosis; *Mental-Retardation-diagnosis; *Strabismus-diagnosis

CHECKTAGS: Human

PUBLICATION TYPE: COMMENT; LETTER

MEDLINE ACCESSION NUMBER: 95366550

UPDATE CODE: 199511

SUBSET: AIM

Record 274 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: The neuropathology of Williams syndrome. Report of a 35-year-old man with presenile beta/A4 amyloid plaques and neurofibrillary tangles.

AUTHOR(S): Golden-JA; Nielsen-GP; Pober-BR; Hyman-BT

ADDRESS OF AUTHOR: Pathology Service (Neuropathology), Massachusetts General Hospital, Boston.

SOURCE (BIBLIOGRAPHIC CITATION): Arch-Neurol. 1995 Feb; 52(2): 209-12

INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9942

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: OBJECTIVE: To study neuropathologically Williams syndrome in a 35-year-old patient. METHODS: Sections from multiple regions of the brain were examined with luxol fast blue and hematoxylineosin staining, and selected sections were stained with the silver impregnation technique (Bielschowsky technique) and Congo red. In addition, immunohistochemistry with monoclonal antibodies against glial fibrillary acidic protein, beta/A4 amyloid, paired helical filaments, and phosphorylated tau protein was performed on cortical, hippocampal, amygdaloid, and basal ganglian sections. RESULTS: No specific macroscopic or microscopic abnormalities were recognized that are specific for Williams syndrome. The histopathologic examination did, however, demonstrate the presence of Alzheimer-type changes, including beta/A4 amyloid-containing senile plaques and scattered neurofibrillary tangles in neocortex and medial temporal lobe structures (entorhinal cortex, CA1 area of the hippocampus, and amygdala). Plaques were most numerous in the amygdala (7/mm2) and in the entorhinal cortex (4/mm2). Neurofibrillary tangles were less numerous (< 1/mm2), except in the hippocampus, where approximately 2/mm2 were found. CONCLUSIONS: To our knowledge, ours represents the first neuropathologic description of a patient with Williams syndrome. Although Williams syndrome is usually sporadic, familial cases have been reported along with candidate chromosomal loci. If our findings are confirmed in additional patients with Williams syndrome, they may provide clues to other factors that are important in the pathogenesis of senile plaques (with beta/A4 amyloid deposition) and neurofibrillary tangles.

MINOR MESH HEADINGS: Adult-; Cardiovascular-Diseases; Dementia-metabolism; Dementia-pathology; Face-abnormalities; Failure-to-Thrive; Hypercalcemia-; Kidney-Diseases; Mental-Retardation; Musculoskeletal-Diseases; Syndrome-; Tooth-Diseases

MAJOR MeSH HEADINGS: *Amyloid-beta-Protein-metabolism; *Brain-metabolism; *Brain-pathology; *Neurofibrillary-Tangles-pathology

CHECKTAGS: Case-Report; Human; Male; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: AG08487AGNIA; P50AG05134AGNIA

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: Amyloid-beta-Protein

MEDLINE ACCESSION NUMBER: 95150867

UPDATE CODE: 199505

SUBSET: AIM

Record 275 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Elastin gene deletions in Williams syndrome.

AUTHOR(S): Smoot-LB

ADDRESS OF AUTHOR: Children's Hospital, Boston, Massachusetts, USA 02115.

SOURCE (BIBLIOGRAPHIC CITATION): Curr-Opin-Pediatr. 1995 Dec; 7(6): 698-701

INTERNATIONAL STANDARD SERIAL NUMBER: 1040-8703

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Williams syndrome is a developmental disorder affecting predominantly connective tissue and the central nervous system. Identification of elastin mutations in families with supravalvar aortic stenosis has enabled the identification of potentially large deletions that include one elastin allele in individuals with Williams syndrome. Current efforts are aimed at defining the extent of these deletions and additional genes that contribute to the Williams syndrome phenotype.

MINOR MESH HEADINGS: Child-; Elastin-biosynthesis; Williams-Syndrome-metabolism

MAJOR MeSH HEADINGS: *Elastin-genetics; *Gene-Deletion; *Williams-Syndrome-genetics

CHECKTAGS: Human

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL

CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3

NAME OF SUBSTANCE: Elastin

MEDLINE ACCESSION NUMBER: 96372199

UPDATE CODE: 199702

Record 276 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders.

AUTHOR(S): Tommerup-N; Vissing-H

ADDRESS OF AUTHOR: Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup.

SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1995 May 20; 27(2): 259-64

INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: We have isolated and chromosomally fine-mapped 16 novel genes belonging to the human zinc finger Kruppel family (ZNF131-140, 142, 143, 148, 151, 154, and 155), including 1 of the GLI type (ZNF143) and 3 containing a KRAB (Kruppel-associated box) segment (ZNF133, 136, and 140). Based on their map position, several of these ZNF genes are putative candidate genes for both developmental and malignant disorders: ZNF138, ZNF139, and ZNF143 were localized to 7q11.2, 7q21.3-q22.1, and 11p15.3-p15.4, regions involved in deletions and/or translocations associated with Williams syndrome, split hand and foot disease (SHFD1), and Beckwith-Wiedemann syndrome, respectively. ZNF133 was localized to 20p11.2, close to, but probably distinct from, the region deleted in Alagille syndrome. Zinc finger genes mapping to regions commonly deleted in solid tumors included ZNF132, 134, 135, 137, 154, and 155, all located on 19q13 (thyroid adenoma), and ZNF151, at 1p36.1-p36.2 (neuroblastoma, colon cancer, and other tumors). In addition, several of the ZNFs mapped to regions implicated in recurrent chromosomal rearrangements in hematological malignancies (ZNF139, 7q21.3-q22.1; ZNF148, 3q21-q22; ZNF151, 1p36.1-p36.2). The study indicates that the number of ZNF genes in human is large and that systematic isolation and mapping of ZNF genes is a straightforward approach for the identification of novel candidate disease genes.

MINOR MESH HEADINGS: Chromosome-Banding; Chromosome-Mapping; DNA,-Complementary-chemistry; Hamsters-; In-Situ-Hybridization,-Fluorescence

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *DNA,-Complementary-isolation-and-purification; *Neoplasms-genetics; *Zinc-Fingers-genetics

CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't

GENE SYMBOL: ZNF

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0

NAME OF SUBSTANCE: DNA,-Complementary

MEDLINE ACCESSION NUMBER: 96044430

UPDATE CODE: 199601

SECONDARY SOURCE IDENTIFIER: GENBANK/U09366; GENBANK/U09367; GENBANK/U09368; GENBANK/U09410; GENBANK/U09411; GENBANK/U09412; GENBANK/U09413; GENBANK/U09414; GENBANK/U09847; GENBANK/U09848; GENBANK/U09849; GENBANK/U09850; GENBANK/U09851; GENBANK/U09852; GENBANK/U20647; GENBANK/U20648

Record 277 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Asymmetrical ability [letter; comment]

COMMENTS: Comment on: Science 1995 May 5;268(5211):621-2

AUTHOR(S): Hickok-G; Bellugi-U; Jones-W

SOURCE (BIBLIOGRAPHIC CITATION): Science. 1995 Oct 13; 270(5234): 219-20

INTERNATIONAL STANDARD SERIAL NUMBER: 0036-8075

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Language-; Magnetic-Resonance-Imaging; Pitch-Discrimination; Temporal-Lobe-pathology

MAJOR MeSH HEADINGS: *Laterality-; *Music-; *Temporal-Lobe-anatomy-and-histology; *Williams-Syndrome-pathology

CHECKTAGS: Comparative-Study; Human

PUBLICATION TYPE: COMMENT; LETTER

MEDLINE ACCESSION NUMBER: 96026315

UPDATE CODE: 199601

Record 278 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Unique profile of visuo-perceptual skills in a genetic syndrome.

AUTHOR(S): Wang-PP; Doherty-S; Rourke-SB; Bellugi-U

ADDRESS OF AUTHOR: Laboratory for Cognitive Neuroscience, Salk Institute for Biological Studies, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Brain-Cogn. 1995 Oct; 29(1): 54-65

INTERNATIONAL STANDARD SERIAL NUMBER: 0278-2626

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Williams syndrome (WS) and Down syndrome (DS) are genetic disorders with characteristic neuropsychological profiles. Subjects with WS show surface similarities to subjects with right hemisphere damage (RHD) in their relative preservation of linguistic skills, their poor visuo-constructive skills, and their hierarchical processing biases. Ten adolescents and young adults with WS and nine matched subjects with DS were administered a battery of visuospatial perceptual tasks to test whether the profile of performance in WS would resemble that in RHD. It was found instead that the WS subjects showed a distinctive clustering of skills, with particular preservation of facial discrimination, but impairment of other perceptual skills. Subjects with DS showed a more homogeneous profile. The WS profile may map onto the functional dichotomy between ventral and dorsal visual pathways in the cerebral cortex.

MINOR MESH HEADINGS: Adolescence-; Brain-Mapping; Cerebral-Cortex-physiopathology; Child-; Dominance,-Cerebral-physiology; Down-Syndrome-physiopathology; Down-Syndrome-psychology; Orientation-physiology; Pattern-Recognition,-Visual-physiology; Psychomotor-Disorders-physiopathology; Psychomotor-Disorders-psychology; Visual-Pathways-physiopathology; Williams-Syndrome-physiopathology; Williams-Syndrome-psychology

MAJOR MeSH HEADINGS: *Dominance,-Cerebral-genetics; *Down-Syndrome-genetics; *Neuropsychological-Tests; *Psychomotor-Disorders-genetics; *Williams-Syndrome-genetics

CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: 5R01HD26022HDNICHD; 5R01DC00146DCNIDCD; 1P01DC01289DCNIDCD

MEDLINE ACCESSION NUMBER: 96109504

UPDATE CODE: 199612

Record 279 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Williams-Beuren syndrome: diagnosis and ocular manifestations]

ORIGINAL TITLE: Syndrome de Williams-Beuren: diagnostic et manifestations oculaires.

AUTHOR(S): Offret-H; Laplace-O

ADDRESS OF AUTHOR: Service d'Ophtalmologie, C.H.U. de Bicetre, Kremlin-Bicetre cedex.

SOURCE (BIBLIOGRAPHIC CITATION): J-Fr-Ophtalmol. 1995; 18(11): 699-702

INTERNATIONAL STANDARD SERIAL NUMBER: 0181-5512

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH

COUNTRY OF PUBLICATION: FRANCE

ABSTRACT: A 24-year-old woman presented with a Williams-Beuren Syndrome which included a characteristic facies, cardiovascular dysfunction and neurologic troubles. Ophthalmic examination showed a stellate pattern of the iris and tortuosities of the retinal vessels. Knowledge of these ocular manifestations could help early diagnosis.

MINOR MESH HEADINGS: Adult-; English-Abstract; Iris-abnormalities; Retinal-Vessels-abnormalities; Williams-Syndrome-complications

MAJOR MeSH HEADINGS: *Eye-Abnormalities-etiology; *Williams-Syndrome-diagnosis

CHECKTAGS: Case-Report; English-Abstract; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL

MEDLINE ACCESSION NUMBER: 96306525

UPDATE CODE: 199612

Record 280 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Cognitive and affective characteristics of children with malformation syndrome]

ORIGINAL TITLE: Considerazioni sulle caratteristiche cognitive e affettive del bambino con sindrome malformativa.

AUTHOR(S): Tosi-B; Maestro-S; Marcheschi-M

ADDRESS OF AUTHOR: IRCCS Stella Maris, INPE Universita di Pisa.

SOURCE (BIBLIOGRAPHIC CITATION): Minerva-Pediatr. 1995 Oct; 47(10): 385-92

INTERNATIONAL STANDARD SERIAL NUMBER: 0026-4946

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH

COUNTRY OF PUBLICATION: ITALY

ABSTRACT: The aim of this paper is to study the psychological and relational aspects in children suffering from specific malformative syndrome and precisely Down s., Sotos s., X-Fragile s. and Williams s. Indeed literature provides much data related to the phenotype, to the organic-biological characteristics, but little or nothing is known about the affective structure, the episodes and to the particular dynamics that emerge in he relation between the parents and the malformed child. A protocol was applied to our sample group (16 subjects). This protocol includes laboratory and instrumental tests (chromosome test, neurometabolic screening, EEG, CT or cranial MRI, cardiac and abdominal ultrasonography, ear and eye test) aspects. This evaluation is carried out through the proposal of standardized situations (psychometric tests) and a use of a freer observational setting. This permits us to understand how the child perceives himself the awareness and the image he has of himself and how able he is to integrate his illness experiences and his way of relating with the environment. The data of our observations are thus used to compile a grill for the structural diagnosis of the personality. Besides, this evaluation is flanked by the observation of the family in order to explore the psychological image that parents have of their child, his character, his good points, his bad points, his similarities, how he relates to them, any educational problems and the emotional reaction that the communication of the diagnosis has raised in them. The videotaped observations are subsequently evaluated through the application of a grill for the study of the mother-child relationship. The results obtained from the psychological research underline a reasonable heterogeneity both of the intellectual level and of the metapsychological profile. Twelve subjects were mentally retarded (5 with mild mental retardation, 7 with moderate mental retardation); the remaining 4 had a normal cognitive development (3 with Sotos s., 1 with Williams s.). Psychological disturbances are present and thus divided: light disturbances (affective immaturity, neurotic-depressive organisation) in 11 subjects. Average disturbances (dysharmonious structure, and borderline personality) in 4 subjects; severe disturbances (psychosis) in 1 subject. Besides, above all in the group of subjects with X-Fragile s. and Down s., the tendency to assume behaviour of a regressive type, also postural, emerges. Among the 4 groups it is frequent to resort to defence mechanisms of hypomaniac type, accompanied by the denial of the patient's "sick parts". Another common characteristic concerns the quality of imaginary life which is shown to be repetitive and stereotype in content. Indeed these children's play activity characterized by a limited capacity of symbolization. Instead, when the symbolic process is more developed, contents concerning a deteriorated and destructive image of the Self emerges. Through the evaluation of family dynamics what is more noticeable is that the parent-malformed child interaction appears to be quite nonstimulating and noninvolving or incoherent, lacking in harmony and empathy towards the child's inner world. Indeed we can notice a lack of both verbal and extraverbal exchange of communication and brief interactive sequences which do not usually take into account the child's proposals and an affective tonality of depressive and nonaffective type. Therefore it may be concluded a certain smoothness in the clinical expression of the syndromes considered, both as far as the cognitive deficit entity and the psychic problems are concerned. Referring to the interactive dynamics between parents and children with dismorphic syndrom it seems that the child's pathology becomes the organizational summit of the above-mentioned relational dynamics among most of the patients examined...

MINOR MESH HEADINGS: Child-; Down-Syndrome-psychology; English-Abstract; Fragile-X-Syndrome-psychology; Gigantism-psychology; Intelligence-Tests; Parent-Child-Relations; Psychological-Tests; Syndrome-; Williams-Syndrome-psychology

MAJOR MeSH HEADINGS: *Cognition-; *Emotions-; *Mental-Retardation-psychology

CHECKTAGS: Comparative-Study; English-Abstract; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96158257

UPDATE CODE: 199605

Record 281 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Noonan and Williams syndromes--basic differential diagnosis [letter; comment]

COMMENTS: Comment on: Clin Pediatr (Phila) 1994 Sep;33(9):548-55

AUTHOR(S): Bzduch-V

SOURCE (BIBLIOGRAPHIC CITATION): Clin-Pediatr-Phila. 1995 Nov; 34(11): 622-3

INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9228

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Diagnosis,-Differential

MAJOR MeSH HEADINGS: *Noonan-Syndrome-diagnosis; *Williams-Syndrome-diagnosis

CHECKTAGS: Human

PUBLICATION TYPE: COMMENT; LETTER

MEDLINE ACCESSION NUMBER: 96165603

UPDATE CODE: 199605

SUBSET: AIM

Record 282 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.

AUTHOR(S): Borg-I; Delhanty-JD; Baraitser-M

ADDRESS OF AUTHOR: Department of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.

SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1995 Sep; 32(9): 692-6

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: A small pilot study has been carried out in order to assess the reliability of the detection of hemizygosity at the elastin locus by fluorescence in situ hybridisation (FISH) analysis, as a diagnostic test in both classical and atypical cases of Williams syndrome (WS). Five subjects with WS and five others in whom a diagnosis could not be confirmed on clinical criteria alone were evaluated. Hemizygosity at the elastin locus by FISH analysis was detected in all classical Williams syndrome cases and in three of the five atypical subjects. Furthermore, a combination of a few specific facial features found to be present in all subjects with the elastin gene hemizygosity has been suggested to aid the index of clinical suspicion.

MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Adolescence-; Adult-; Child-; Chromosome-Banding; Facies-; Williams-Syndrome-genetics

MAJOR MeSH HEADINGS: *Elastin-genetics; *In-Situ-Hybridization,-Fluorescence; *Williams-Syndrome-diagnosis

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3

NAME OF SUBSTANCE: Elastin

MEDLINE ACCESSION NUMBER: 96091870

UPDATE CODE: 199604

Record 283 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Coarctation of the abdominal aorta.

AUTHOR(S): Bergamini-TM; Bernard-JD; Mavroudis-C; Backer-CL; Muster-AJ; Richardson-JD

ADDRESS OF AUTHOR: Department of Surgery, University of Louisville School of Medicine, KY 40202, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Ann-Vasc-Surg. 1995 Jul; 9(4): 352-6

INTERNATIONAL STANDARD SERIAL NUMBER: 0890-5096

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Four patients with suprarenal coarctation of the abdominal aorta were managed from 1978 to 1993 (mean follow-up 8.75 years). Ages at the time of diagnosis were 2 months, 8 months, 4.5 years, and 15 years, respectively. Three children presented with severe hypertension, two of whom were in congestive heart failure, and the fourth child presented with a cold, ischemic leg. The 8-month-old patient had Williams syndrome (supravalvular aortic and pulmonic stenosis, bilateral renal artery stenosis and celiac artery occlusion, "elfin" facies, and mental retardation) and was treated nonoperatively. After 12 years of follow-up, he was given five medications to control hypertension, cardiac arrhythmias, and heart failure. Three patients with abdominal aortic coarctation were treated operatively and none died. Two patients underwent bypass grafting from the supraceliac aorta to the infrarenal aorta, with bilateral renal artery reconstruction in one. Postoperative arteriograms obtained 1 year or more after operation were normal in both cases. The 2-month-old patient underwent patch aortoplasty, with subsequent reoperation 1.5 years later for recurrent hypertension and heart failure with a bypass graft to the left kidney and removal of an infarcted right kidney. In all three patients, operative repair of the suprarenal aortic coarctation has resulted in long-term control of blood pressure and cardiac and renal function.

MINOR MESH HEADINGS: Adolescence-; Aorta,-Abdominal; Aortic-Coarctation-complications; Child,-Preschool; Infant-; Treatment-Outcome; Williams-Syndrome-complications

MAJOR MeSH HEADINGS: *Aortic-Coarctation-surgery

CHECKTAGS: Case-Report; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96077516

UPDATE CODE: 199604

Record 284 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Strabismus in Williams syndrome [see comments]

COMMENTS: Comment in: Am J Ophthalmol 1995 Aug;120(2):266-7

AUTHOR(S): Kapp-ME; von-Noorden-GK; Jenkins-R

ADDRESS OF AUTHOR: Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Ophthalmol. 1995 Mar; 119(3): 355-60

INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9394

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: PURPOSE: Williams syndrome is a rare genetic disorder, consisting of mental retardation, supravalvular aortic stenosis, elfin facies, and specific ocular findings, including strabismus. We undertook this study to evaluate the characteristics of the strabismus in Williams syndrome. METHODS: We examined 32 patients with Williams syndrome to determine the prevalence and define the features of the strabismus in this patient population. RESULTS: Twenty-five of the 32 patients (78%) had strabismus, esotropia being the predominant form in 23 of the 25 patients. Of the 19 patients with Williams syndrome who had infantile esotropia, seven had dissociated vertical deviation, ten had oblique dysfunction, and six had amblyopia. CONCLUSIONS: When the patients with Williams syndrome were compared to the general population, no statistically significant difference was found in the clinical characteristics of infantile esotropia between the two groups. Because of the high prevalence of esotropia in patients with Williams syndrome (72%) compared to the general population (0.1%), we postulate a genetic link between Williams syndrome and the hereditary form of infantile esotropia.

MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Face-abnormalities; Infant-; Kidney-abnormalities; Oculomotor-Muscles-surgery; Prevalence-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Aortic-Valve-Stenosis-diagnosis; *Mental-Retardation-diagnosis; *Strabismus-diagnosis

CHECKTAGS: Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95177247

UPDATE CODE: 199506

SUBSET: AIM

Record 285 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

AUTHOR(S): Mari-A; Amati-F; Mingarelli-R; Giannotti-A; Sebastio-G; Colloridi-V; Novelli-G; Dallapiccola-B

ADDRESS OF AUTHOR: Cattedra di Genetica Umana, Universita Tor Vergata, Roma, Italy.

SOURCE (BIBLIOGRAPHIC CITATION): Hum-Genet. 1995 Oct; 96(4): 444-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6717

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: GERMANY

ABSTRACT: Williams syndrome (WS) is caused by deletion of the elastin (ELN) gene. We have analyzed an intragenic restriction fragment length polymorphism (RFLP) and the gene dosage of ELN using a new probe (FP4) in a series of 60 sporadic patients with a clinical diagnosis of WS. Deletion of the ELN gene was shown in 54 cases, while clinical revaluation of the 6 patients without the deletion did not confirm the diagnosis of WS. These results support the genetic homogeneity of WS, and the high accuracy of ELN molecular analysis, which can be confidenty used for providing genetic counselling to WS families.

MINOR MESH HEADINGS: Adolescence-; Adult-; Base-Sequence; Child-; Child,-Preschool; Chromosome-Mapping; DNA-analysis; Infant-; Molecular-Sequence-Data; Polymerase-Chain-Reaction; Polymorphism,-Restriction-Fragment-Length

MAJOR MeSH HEADINGS: *Elastin-genetics; *Williams-Syndrome-genetics

CHECKTAGS: Human; Support,-Non-U.S.-Gov't

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 9007-49-2; 9007-58-3

NAME OF SUBSTANCE: DNA; Elastin

MEDLINE ACCESSION NUMBER: 96013906

UPDATE CODE: 199601

SECONDARY SOURCE IDENTIFIER: GENBANK/U58493

Record 286 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Williams syndrome.

AUTHOR(S): Oncag-A; Gunbay-S; Parlar-A

ADDRESS OF AUTHOR: Ege University, Dental Faculty, Oral and Maxillofacial Surgery Department, Izmir, Turkey.

SOURCE (BIBLIOGRAPHIC CITATION): J-Clin-Pediatr-Dent. 1995 Summer; 19(4): 301-4

INTERNATIONAL STANDARD SERIAL NUMBER: 1053-4628

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Williams syndrome is a rare syndrome. It usually can be diagnosed first in dental clinics because of the typical oral and facial features of the syndrome. The aim of this article is to report this 8 year old Turkish boy with Williams syndrome, and to revise the dental features of these special patients and the dental treatment procedures that can be followed for these patients.

MINOR MESH HEADINGS: Child-; Dental-Caries-etiology; Dental-Caries-therapy; Facies-; Tooth-Abnormalities-etiology; Williams-Syndrome-complications

MAJOR MeSH HEADINGS: *Dental-Care-for-Disabled; *Dental-Caries; *Tooth-Abnormalities; *Williams-Syndrome-pathology

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96036310

UPDATE CODE: 199601

SUBSET: DENTAL

Record 287 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: The genetic basis of paediatric heart disease.

AUTHOR(S): Johnson-MC; Payne-RM; Grant-JW; Strauss-AW

ADDRESS OF AUTHOR: Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Ann-Med. 1995 Jun; 27(3): 289-300

INTERNATIONAL STANDARD SERIAL NUMBER: 0785-3890

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: This review focuses on recent advances in understanding the pathogenesis of paediatric heart disease and on the known single gene defects responsible for these diseases. Many paediatric cardiovascular diseases are heritable, have clinical manifestations in adult ages, are frequent in occurrence, and can have significant social and economic impact. Specific gene defects have been identified for hypertrophic and dilated cardiomyopathies, mitochondrial cardiomyopathies, Marfan's syndrome, Williams syndrome, familial supravalvar aortic stenosis, CATCH-22 syndrome and atrioventricular canal. Limited phenotypic response of the developing heart accounts for similar cardiovascular defects from differing gene defects. Although environmental factors affect expression of many of these genes, it is clear that single gene defects can be identified which cause paediatric cardiovascular disease. Interactions among cardiologists, cardiovascular surgeons, geneticists and basic scientists are vitally important in understanding the genetic basis of paediatric heart disease, its diagnosis and its therapy.

MINOR MESH HEADINGS: Adult-; Child-; Chromosome-Aberrations; Heart-Conduction-System; Infant,-Newborn; Mutation-; Phenotype-; Sarcomeres-genetics

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Heart-Defects,-Congenital-genetics; *Heart-Diseases-genetics; *Mitochondrial-Myopathies-genetics; *Muscular-Diseases-genetics

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-LITERATURE

MEDLINE ACCESSION NUMBER: 96035288

UPDATE CODE: 199601

Record 288 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Fragile X boys: evolution of the mental age in childhood. Preliminary data on 10 prepubertal boys.

AUTHOR(S): Borghgraef-M; Swillen-A; Van-den-Berghe-H; Fryns-JP

ADDRESS OF AUTHOR: Center for Human Genetics, University of Leuven, Belgium.

SOURCE (BIBLIOGRAPHIC CITATION): Genet-Couns. 1995; 6(2): 97-101

INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: SWITZERLAND

ABSTRACT: In this report we present data on the longitudinal evolution of the mental versus the chronological age in 10 fragile X boys diagnosed before the age of 6 years and compare these findings to the longitudinal evolution in children with Down syndrome (6 patients) and Williams syndrome (4 patients). The present findings suggest that the evolution of the velocity of development is more decreased in fra(x) boys compared to the two other groups.

MINOR MESH HEADINGS: Adolescence-; Age-Factors; Child-; Child,-Preschool; Down-Syndrome-genetics; Down-Syndrome-psychology; Fragile-X-Syndrome-psychology; Phenotype-

MAJOR MeSH HEADINGS: *Fragile-X-Syndrome-genetics; *Intelligence-genetics

CHECKTAGS: Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 96039929

UPDATE CODE: 199601

Record 289 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

AUTHOR(S): Kotzot-D; Bernasconi-F; Brecevic-L; Robinson-WP; Kiss-P; Kosztolanyi-G; Lurie-IW; Superti-Furga-A; Schinzel-A

ADDRESS OF AUTHOR: Institute of Medical Genetics, University of Zurich, Switzerland.

SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Pediatr. 1995 Jun; 154(6): 477-82

INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6199

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: GERMANY

ABSTRACT: To correlate presence or absence of a 7q11 microdeletion with the clinical picture of the Williams-Beuren syndrome (WBS), we investigated 29 patients with a clinical diagnosis of WBS or WBS-like features, aged 1-30 years, using molecular analysis and/or fluorescent in situ hybridization (FISH). Deletions at 7q11 were found in 75% of the patients (22 out of 29). Nine deletions occurred on a paternal, and ten on a maternal chromosome; three deletions were demonstrated by FISH only, and parental origin could thus not be determined. All deletion patients aged between 2 years and puberty displayed a distinct pattern of facial features (including periorbital fullness, short nose with flat bridge, wide mouth, and full lips and cheeks), the characteristic outgoing social behaviour, as well as moderate growth and mental retardation. Two-thirds (15 out of 22) had a cardiovascular malformation, but only one third (7 of 22) had supravalvular aortic stenosis (SVAS). A stellate iris pattern was also present in one-third of the patients only. In the four adult patients with 7q11 deletions, there was prominence of the lower lip whereas fullness of cheeks and periorbital tissue was not seen. CONCLUSION: This study confirms that WBS has a unique clinical picture which can be diagnosed clinically, but also shows that the relative frequency of individual features may have been overemphasized in the past, and that a minority of patients may exist who are clinically indistinguishable from WBS but who appear to have no deletion at 7q11.

MINOR MESH HEADINGS: Adolescence-; Adult-; Case-Control-Studies; Child-; Child,-Preschool; Developmental-Disabilities-genetics; Diagnosis,-Differential; Face-abnormalities; Heart-Defects,-Congenital-genetics; Infant-; Pedigree-; Phenotype-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Elastin-genetics

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3

NAME OF SUBSTANCE: Elastin

MEDLINE ACCESSION NUMBER: 95402010

UPDATE CODE: 199512

Record 290 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

AUTHOR(S): Lowery-MC; Morris-CA; Ewart-A; Brothman-LJ; Zhu-XL; Leonard-CO; Carey-JC; Keating-M; Brothman-AR

ADDRESS OF AUTHOR: Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1995 Jul; 57(1): 49-53

INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Williams syndrome (WS) is generally characterized by mental deficiency, gregarious personality, dysmorphic facies, supravalvular aortic stenosis, and idiopathic infantile hypercalcemia. Patients with WS show allelic loss of elastin (ELN), exhibiting a submicroscopic deletion, at 7q11.23, detectable by FISH. Hemizygosity is likely the cause of vascular abnormalities in WS patients. A series of 235 patients was studied, and molecular cytogenetic deletions were seen in 96% of patients with classic WS. Patients included 195 solicited through the Williams Syndrome Association (WSA), plus 40 clinical cytogenetics cases referred by primary-care physicians. Photographs and medical records of most WSA subjects were reviewed, and patients were identified as "classic" (n = 114) or "uncertain" (n = 39). An additional 42 WSA patients were evaluated without clinical information. FISH was performed with biotinylated ELN cosmids on metaphase cells from immortalized lymphoblastoid lines from WSA patients and after high-resolution banding analysis on clinical referral patients. An alpha-satellite probe for chromosome 7 was included in hybridizations, as an internal control. Ninety-six percent of the patients with classic WS showed a deletion in one ELN allele; four of these did not show a deletion. Of the uncertain WS patients, only 3 of 39 showed a deletion. Of the 42 who were not classified phenotypically, because of lack of clinical information, 25 patients (60%) showed a deletion. Thirty-eight percent (15/40) of clinical cytogenetics cases showed an ELN deletion and no cytogenetic deletion by banded analysis. These results support the usefulness of FISH for the detection of elastin deletions as an initial diagnostic assay for WS.

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Child,-Preschool; DNA-Probes; Face-abnormalities; Growth-Disorders-genetics; Heart-Defects,-Congenital-genetics; In-Situ-Hybridization,-Fluorescence; Infant-; Phenotype-; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-7-genetics; *Elastin-genetics; *Gene-Deletion

CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: R01HL4807HLNHLBI; M01RR00064RRNCRR

CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3

NAME OF SUBSTANCE: DNA-Probes; Elastin

MEDLINE ACCESSION NUMBER: 95335681

UPDATE CODE: 199510

Record 291 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Williams-Beuren syndrome and celiac disease]

ORIGINAL TITLE: Sindrome di Williams-Beuren associata a malattia celiaca.

AUTHOR(S): Chiaravalloti-G; Rossomando-V; Quinti-S; Assanta-N; Ughi-C; Ceccarelli-M

ADDRESS OF AUTHOR: Istituto di Clinica Pediatrica, Universita degli Studi, Pisa.

SOURCE (BIBLIOGRAPHIC CITATION): Minerva-Pediatr. 1995 Jan-Feb; 47(1-2): 43-6

INTERNATIONAL STANDARD SERIAL NUMBER: 0026-4946

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH

COUNTRY OF PUBLICATION: ITALY

ABSTRACT: The authors describe a case of Williams syndrome-Coeliac Disease that they have observed at the age of three years and 10/12. There are few reports in the literature. We focus on the variability of clinical and biochemical aspects of Williams Disease and the necessity for an adequate gastroenterologic follow-up (anti-gliadine antibody and anti-endomisium antibody) in these patients with little growth in terms of weight and height and intestinal alterations present in superior measure in companion with the reported standards for the same syndrome.

MINOR MESH HEADINGS: Antibodies-; Celiac-Disease-diagnosis; Celiac-Disease-drug-therapy; Child,-Preschool; English-Abstract; Follow-Up-Studies; Gastrointestinal-Diseases-etiology; Gliadin-immunology; IgA-therapeutic-use; IgG-therapeutic-use; Syndrome-

MAJOR MeSH HEADINGS: *Celiac-Disease-complications

CHECKTAGS: Case-Report; English-Abstract; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 9007-90-3

NAME OF SUBSTANCE: Antibodies; IgA; IgG; Gliadin

MEDLINE ACCESSION NUMBER: 95311839

UPDATE CODE: 199509

Record 292 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome.

AUTHOR(S): Perez-Jurado-LA; Li-X; Francke-U

ADDRESS OF AUTHOR: Department of Genetics, Stanford University School of Medicine, CA, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Cytogenet-Cell-Genet. 1995; 70(3-4): 246-9

INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0171

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: SWITZERLAND

ABSTRACT: The human calcitonin receptor (CTR) is a transmembrane peptide with dual action as a receptor for the hormone calcitonin and as an extracellular calcium sensor. Therefore, CTR dysfunction could lead to disorders of calcium metabolism associated with hypercalcemia, such as the Williams syndrome (WS). WS is a developmental disorder caused by a deletion at chromosome 7q11.23 that includes the elastin locus (ELN). We have mapped the CTR gene (CALCR) to chromosome band 7q21.3 by polymerase chain reaction and single-strand conformation analysis of somatic cell hybrids as well as fluorescence in situ hybridization (FISH) to metaphase chromosome spreads. Two-color FISH cohybridizing CTR and ELN probes confirmed that CALCR maps telomeric to ELN. Subsequent analysis of chromosome spreads from four WS patients revealed deletion of the ELN locus in all of them and normal hybridization of CTR probes to both chromosome 7 homologues, indicating that CALCR lies outside the deleted region.

MINOR MESH HEADINGS: Base-Sequence; Chromosome-Mapping; Cricetulus-; DNA-Primers; Elastin-genetics; Genomic-Library; Hamsters-; Hybrid-Cells; In-Situ-Hybridization,-Fluorescence; Molecular-Sequence-Data; Syndrome-

MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Growth-Disorders-genetics; *Receptors,-Calcitonin-genetics

CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

GENE SYMBOL: C; A; L; C; R; ELN

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: HG00298HGNHGRI

CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 9007-58-3

NAME OF SUBSTANCE: DNA-Primers; Receptors,-Calcitonin; Elastin

MEDLINE ACCESSION NUMBER: 95309031

UPDATE CODE: 199509

Record 293 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome.

AUTHOR(S): Keating-MT

ADDRESS OF AUTHOR: Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84112, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Circulation. 1995 Jul 1; 92(1): 142-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0009-7322

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: BACKGROUND: Although family history can be an important risk factor for cardiovascular disease, relatively little is known about the nature of specific genetic risk factors. One approach to this problem is to identify and characterize genes responsible for inherited disorders in the hope that this information will also provide mechanistic insight into common forms of cardiovascular disease. METHODS AND RESULTS: Over the last decade, it has become possible to identify genes that cause human disease by use of the techniques of molecular genetics, specifically genetic linkage analysis, positional cloning, and mutational analyses. We have used these techniques to study three inherited cardiovascular disorders: supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome. We have discovered that the vascular pathology of supravalvular aortic stenosis and Williams syndrome results from mutations involving the elastin gene on chromosome 7q11.23. These mutations include intragenic deletions, translocations, and complete deletion of the elastin gene, suggesting that a quantitative reduction in elastin during vascular development is pathogenically important. To date, only the elastin gene has proved important for supravalvular aortic stenosis. By contrast, genetic linkage analyses in families with long-QT syndrome indicate that at least four distinct genes can cause this disorder. We have identified three LQT loci: LQT1 on chromosome 11p15.5, LQT2 on 7q35-36, and LQT3 on 3p21-24. Recently, we demonstrated that mutations in a putative cardiac potassium channel gene, HERG, are responsible for the chromosome 7-linked form of long-QT syndrome, whereas mutations in the cardiac sodium channel gene SCN5A cause the chromosome 3-linked form of this disorder. HERG mutations and potassium channel biophysics suggest a dominant-negative molecular mechanism and reduced repolarization currents. By contrast, SCN5A mutations probably cause subtle alterations of cardiac sodium channel function and prolonged depolarizing currents. CONCLUSIONS: Molecular genetic analyses of long-QT syndrome, supravalvular aortic stenosis, and Williams syndrome have begun to unravel the mechanisms underlying these inherited disorders. Rapid genetic testing for Williams syndrome is now available using a simple cytogenetic test, fluorescence in situ hybridization, but additional work will be required for long-QT syndrome and autosomal-dominant supravalvular aortic stenosis. Improved diagnosis and mechanistic understanding of these disorders should lead to rational treatment and prevention.

MINOR MESH HEADINGS: Chromosome-Mapping; Elastin-genetics; Electrocardiography-; Mutation-; Sodium-Channels-genetics; Syndrome-

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-genetics; *Long-QT-Syndrome-genetics

CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

GENE SYMBOL: H; E; R; G; SCN5A

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: RO1HL50343HLNHLBI; RO1HL46401HLNHLBI

CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3

NAME OF SUBSTANCE: Sodium-Channels; Elastin

MEDLINE ACCESSION NUMBER: 95308745

UPDATE CODE: 199509

SUBSET: AIM

Record 294 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Chest case of the day. Williams-Campbell syndrome.

AUTHOR(S): McAdams-HP; Erasmus-J

ADDRESS OF AUTHOR: Department of Radiology, Duke University Medical Center, Durham, NC 27710, USA.

SOURCE (BIBLIOGRAPHIC CITATION): AJR-Am-J-Roentgenol. 1995 Jul; 165(1): 190-1

INTERNATIONAL STANDARD SERIAL NUMBER: 0361-803X

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Adult-; Diagnosis,-Differential; Syndrome-; Tomography,-X-Ray-Computed

MAJOR MeSH HEADINGS: *Bronchiectasis-congenital; *Bronchiectasis-radiography

CHECKTAGS: Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95305117

UPDATE CODE: 199509

SUBSET: AIM

Record 295 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

AUTHOR(S): Nickerson-E; Greenberg-F; Keating-MT; McCaskill-C; Shaffer-LG

ADDRESS OF AUTHOR: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1995 May; 56(5): 1156-61

INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: To investigate the frequency of deletions of the elastin gene in patients with Williams syndrome (WS), we screened 44 patients by both FISH and PCR amplification of a dinucleotide repeat polymorphism. FISH was performed using cosmids containing either the 5' or the 3' end of the elastin gene. PCR analysis was performed on the patients and their parents with a (CA)n repeat polymorphism found in intron 17 of the elastin locus. Of the 44 patients screened, 91% were shown to be deleted by FISH. Using the DNA polymorphism, both maternally (39%) and paternally (61%) derived deletions were found. Four patients were not deleted for elastin but have clinical features of WS. Since deletions of elastin cannot account for several features found in WS, these patients will be valuable in further delineation of the critical region responsible for the WS phenotype. Although PCR can be useful for determining the parental origin of the deletion, our results demonstrate that FISH analysis of the elastin locus provides a more rapid and informative test to confirm a clinical diagnosis of WS. The presence of two copies of the elastin locus in a patient does not, however, rule out WS as a diagnosis.

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Aortic-Valve-Stenosis-genetics; Face-abnormalities; Growth-Disorders-genetics; In-Situ-Hybridization,-Fluorescence; Karyotyping-; Mental-Retardation-genetics; Polymerase-Chain-Reaction

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-7-genetics; *Elastin-genetics; *Gene-Deletion

CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: RO1HL50343HLNHLBI

CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3

NAME OF SUBSTANCE: Elastin

MEDLINE ACCESSION NUMBER: 95243233

UPDATE CODE: 199507

Record 296 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome [letter]

AUTHOR(S): Gilbert-Dussardier-B; Bonneau-D; Gigarel-N; Le-Merrer-M; Bonnet-D; Philip-N; Serville-F; Verloes-A; Rossi-A; Ayme-S; et-al

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1995 Feb; 56(2): 542-4

INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Adolescence-; Adult-; Base-Sequence; Child-; Child,-Preschool; Chromosome-Mapping; DNA,-Satellite-genetics; Elastin-genetics; Genetic-Markers-genetics; Molecular-Sequence-Data; Sequence-Deletion; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-7; *Genetic-Markers; *Monosomy-

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: LETTER

CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 9007-58-3

NAME OF SUBSTANCE: DNA,-Satellite; Genetic-Markers; Elastin

MEDLINE ACCESSION NUMBER: 95150048

UPDATE CODE: 199505

Record 297 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Toward a molecular understanding of congenital heart disease.

AUTHOR(S): Payne-RM; Johnson-MC; Grant-JW; Strauss-AW

ADDRESS OF AUTHOR: Department of Pediatrics, Washington University School of Medicine, St Louis, Mo.

SOURCE (BIBLIOGRAPHIC CITATION): Circulation. 1995 Jan 15; 91(2): 494-504

INTERNATIONAL STANDARD SERIAL NUMBER: 0009-7322

PUBLICATION YEAR: 1995

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: BACKGROUND: This review discusses the incidence and importance of congenital heart disease (CHD), the reasons that investigation of causative mechanisms for human CHD has been slow, and the limitations of the multifactorial theory for the etiology of CHD. METHODS AND RESULTS: The molecular defects underlying three vasculopathies--Marfan's syndrome (fibrillin), supravalvar aortic stenosis, and Williams' syndrome (elastin)--and hereditary telangiectasia are presented to emphasize the role of microfibrils and extracellular matrix in the pathophysiology of these vascular defects. Animal models of CHD, including situs inversus, canine conotruncal malformations, and chick neural crest ablation, are examined to emphasize how such studies relate to human CHD, especially by pointing to single-gene defects for conotruncal malformations, candidate loci for situs inversus, and phenotypic variability caused by neural crest lesions. The crucial role of cardiac transcription factors in heart morphogenesis is emphasized by review of gene knockout studies of these factors, which cause fetal death secondary to heart maldevelopment. Several lines of evidence demonstrating genetic etiologies of human CHD are also presented, including the mapping of familial atrial septal defects, to prove that one anatomic type of CHD may be due to single-gene defects at different loci. Review of atrioventricular canal, both secondary to trisomy 21 and as an autosomal-dominant familial defect, reiterates this conclusion. The evidence that monosomy on chromosome 22 causes multiple types of CHD, including aortic arch and conotruncal defects as part of the CATCH-22 syndrome, is presented, with results supporting the idea that deletions at this site alone may cause 5% of surgically treated CHD. CONCLUSIONS: We conclude that (1) human CHD is frequently due to single-gene defects and that even sporadic defects may arise from a single-gene abnormality; (2) a common genetic defect may cause several apparently different forms of CHD; (3) elucidation of the genetic basis of CHD provides clues to normal cardiovascular developmental biology; (4) the same cardiac malformation can be caused by mutant genes at different loci; and (5) interactions of clinical investigators (cardiologists and cardiothoracic surgeons) with basic scientists should allow more rapid progress in defining the genetic basis of CHD.

MAJOR MeSH HEADINGS: *Heart-Defects,-Congenital-genetics

CHECKTAGS: Animal; Human

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL

MEDLINE ACCESSION NUMBER: 95103770

UPDATE CODE: 199504

SUBSET: AIM

Record 298 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome.

AUTHOR(S): Ardinger-RH Jr; Goertz-KK; Mattioli-LF

ADDRESS OF AUTHOR: Department of Pediatrics, University of Kansas School of Medicine, Kansas City 66160-7330.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Jul 1; 51(3): 200-2

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: We report on a patient with Williams syndrome who suffered a cerebrovascular accident. Clinical evaluation demonstrated the presence of carotid and cerebral arterial stenoses. We believe these lesions led to acute cerebrovascular ischemia and a non-hemorrhagic cerebral infarction. It is possible the stenoses were exacerbated by a vasculitis. The stenoses were identified by both invasive and noninvasive imaging studies. These studies may have a role in the evaluation of persons with Williams syndrome.

MINOR MESH HEADINGS: Brain-Ischemia-etiology; Carotid-Artery,-Internal; Carotid-Stenosis-radiography; Cerebral-Angiography; Cerebral-Arterial-Diseases-radiography; Child,-Preschool; Facial-Expression; Growth-Disorders-complications; Heart-Defects,-Congenital-complications; Mental-Retardation-complications; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Carotid-Stenosis-complications; *Cerebral-Arterial-Diseases-complications; *Cerebral-Infarction-etiology

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94354221

UPDATE CODE: 199412

Record 299 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: "Autistic" behavior in two children with Williams-Beuren syndrome [letter]

AUTHOR(S): Gosch-A; Pankau-R

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Oct 15; 53(1): 83-4

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Child,-Preschool; Infant-; Syndrome-

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-complications; *Autistic-Disorder-complications; *Hypercalcemia-complications

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: LETTER

MEDLINE ACCESSION NUMBER: 95100298

UPDATE CODE: 199503

Record 300 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Brief report: four case histories and a literature review of Williams syndrome and autistic behavior.

AUTHOR(S): Gillberg-C; Rasmussen-P

ADDRESS OF AUTHOR: Child Neuropsychiatry Clinic, Annedals Clinics, Goteborg, Sweden.

SOURCE (BIBLIOGRAPHIC CITATION): J-Autism-Dev-Disord. 1994 Jun; 24(3): 381-93

INTERNATIONAL STANDARD SERIAL NUMBER: 0162-3257

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Abnormalities,-Multiple-epidemiology; Abnormalities,-Multiple-psychology; Adolescence-; Autistic-Disorder-epidemiology; Autistic-Disorder-psychology; Comorbidity-; Facial-Expression; Mental-Retardation-diagnosis; Mental-Retardation-epidemiology; Mental-Retardation-psychology; Psychiatric-Status-Rating-Scales; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Autistic-Disorder-diagnosis

CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94327441

UPDATE CODE: 199411

Record 301 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Williams-Campbell syndrome]

AUTHOR(S): Chida-S; Fujiwara-T

ADDRESS OF AUTHOR: Department of Pediatrics, Iwate Medical University.

SOURCE (BIBLIOGRAPHIC CITATION): Ryoikibetsu-Shokogun-Shirizu. 1994(3): 483-4

INTERNATIONAL STANDARD SERIAL NUMBER: 0047-1852

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH

COUNTRY OF PUBLICATION: JAPAN

MINOR MESH HEADINGS: Infant-

MAJOR MeSH HEADINGS: *Bronchi-abnormalities; *Bronchiectasis-etiology; *Cartilage-abnormalities

CHECKTAGS: Human

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL

MEDLINE ACCESSION NUMBER: 94202571

UPDATE CODE: 199407

Record 302 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Linguistic abilities in children with Williams-Beuren syndrome.

AUTHOR(S): Gosch-A; Stading-G; Pankau-R

ADDRESS OF AUTHOR: Department of Pediatrics, University of Kiel, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Sep 1; 52(3): 291-6

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: In recent studies children with Williams-Beuren syndrome (WBS) have been characterized as having a distinct neuropsychological profile with verbal abilities being superior to visuo-spatial and motor skills. An unusual command of language, including excessive use of verbal stereotypes, social phrases, and cliches has been noticed. The aim of this study is to establish whether the quality and quantity of verbal behavior, and the articulation and tonal quality of the voices of children with WBS differ from other children with nonspecific developmental disabilities. A group of 25 children with WBS and a control group of 25 children matched for age (4-10 years), sex (12 girls; 13 boys), and non-verbal reasoning abilities (mean IQ = 79) were investigated. The Heidelberg Language Development Test and a picture story were administered. The mothers were asked to answer a questionnaire to assess the articulation and the vocal characteristics of their children. The results show that children with WB syndrome do not differ in most qualitative and quantitative tasks with regard to verbal competence. They produce significantly more correct plural-singular formations than the control children (t = 2.49, P < 0.01) on a primitive level of grammatical competence. In general, their articulation was reported to be more exact and clear (t = -2.73, P < 0.006). More mothers of children with WBS noticed a production of stereotypes, the use of social phrases, and cliches than did mothers of the control children (Chi square = -6.67 P < 0.005). Children with WBS were less likely to lisp as compared to the control children (Chi square = 2.08, P = 0.074).(ABSTRACT TRUNCATED AT 250 WORDS)

MINOR MESH HEADINGS: Articulation-Disorders-psychology; Child-; Child,-Preschool; Developmental-Disabilities-psychology; Language-Development; Mental-Retardation-psychology; Stereotyped-Behavior; Syndrome-; Verbal-Behavior; Voice-

MAJOR MeSH HEADINGS: *Face-abnormalities; *Growth-Disorders-psychology; *Linguistics-

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95109565

UPDATE CODE: 199504

Record 303 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Head circumference of children with Williams-Beuren syndrome.

AUTHOR(S): Pankau-R; Partsch-CJ; Neblung-A; Gosch-A; Wessel-A

ADDRESS OF AUTHOR: Children's Hospital University of Kiel, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Sep 1; 52(3): 285-90

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Head circumference is considered an important parameter of brain growth and development. Syndrome-specific standards for head circumference in Williams-Beuren syndrome (WBS) are not available to date, although mental retardation is a leading manifestation in the syndrome. Therefore, we investigated head growth in 63 girls (251 measurements) and 88 boys (298 measurements) with WBS between birth and adulthood. Most measurements in both sexes were from the first 4 years of life (n = 162 in girls and n = 189 in boys). Mean (+/- SD) head circumference at birth was 33.39 +/- 1.38 cm and 34.02 +/- 1.44 cm for term girls and boys, respectively. Although head growth in WBS girls and boys was at a slower velocity, the pattern of head circumference was similar to that in the normal population. After the age of 3 months, head circumference started to fall below the normal mean in girls (0.5-2 cm). In boys, mean head circumference was below the normal mean already at 1 month of age (2 cm). The deficit increased to 3 cm from 6 months to 4 years. Adult OFC was 52.85 +/- 1.75 cm (n = 16) compared to 55.70 +/- 1.83 cm (n = 46; P < 0.00001) in WBS women and 55.51 +/- 1.68 cm (n = 30) compared to 57.87 +/- 1.29 cm (n = 31; P < 0.00001) in WBS men. During development, microcephaly is only seen in about one third of WBS patients.

MINOR MESH HEADINGS: Abnormalities,-Multiple-pathology; Adolescence-; Brain-growth-and-development; Brain-pathology; Cephalometry-; Child-; Child,-Preschool; Face-abnormalities; Infant-; Infant,-Newborn; Mental-Retardation-pathology; Syndrome-

MAJOR MeSH HEADINGS: *Developmental-Disabilities-pathology; *Growth-Disorders-pathology; *Head-pathology

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95109564

UPDATE CODE: 199504

Record 304 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Kyphoscoliosis in Williams syndrome.

AUTHOR(S): Osebold-WR; King-HA

ADDRESS OF AUTHOR: Shriners Hospitals for Crippled Children, Spokane, Washington.

SOURCE (BIBLIOGRAPHIC CITATION): Spine. 1994 Feb 1; 19(3): 367-71

INTERNATIONAL STANDARD SERIAL NUMBER: 0362-2436

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: A 10-year-old girl with Williams syndrome (with characteristic facies and behavior, mental retardation, and growth disturbances) was seen with scoliosis, which, despite attempted bracing, rapidly progressed to 95 degrees and required surgical stabilization. Review of the entire literature on Williams syndrome revealed hallux valgus and little-finger clinodactyly as the most commonly mentioned orthopaedic manifestations, with only brief mention of spinal deformity. As awareness of Williams syndrome increases, spine surgeons must be aware of possible rapidly progressive scoliosis and kyphosis.

MINOR MESH HEADINGS: Child-; Facial-Expression; Heart-Defects,-Congenital-complications; Kyphosis-surgery; Scoliosis-surgery; Spinal-Fusion; Syndrome-; Thoracic-Vertebrae-surgery

MAJOR MeSH HEADINGS: *Developmental-Disabilities-complications; *Kyphosis-complications; *Mental-Retardation-complications; *Scoliosis-complications

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94225263

UPDATE CODE: 199408

Record 305 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Social-emotional and behavioral adjustment in children with Williams-Beuren syndrome.

AUTHOR(S): Gosch-A; Pankau-R

ADDRESS OF AUTHOR: Department of Pediatrics, University of Kiel, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Dec 1; 53(4): 335-9

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: In children with Williams-Beuren syndrome (WBS), disturbed behaviors (neurotic, antisocial, and hyperactive) [Arnold et al., 1985: Dev Med Child Neurol 27:49-59; Udwin et al., 1987: J Child Psychol Psychiat 28:297-309] have been described. To study the behavior disturbances and social-emotional adjustment in children with WBS, a group of N = 19 patients was compared with a control group, matched for age, gender, and nonverbal reasoning abilities. Parents were asked to assess the children's behavior in terms of a list of 20 items of the Child Behavior Checklist (CBCL) [Achenbach and Edelbrock, 1983: Manual for the Child Behavior Checklist] and the Vineland Social Maturity Scale (VSMS) [Luer et al., 1972: Kurzform der Vineland Social Maturity Scale]. As compared with the control group, children with WBS differ significantly in their social behavior towards strangers. They exhibit no reserve or distancing behavior and would, for instance, follow a stranger without hesitation. They are described as showing a hypersensitivity to sounds that is more pronounced than in the control group. Finally, they are found to be significantly less well-adjusted socially than the control individuals.

MINOR MESH HEADINGS: Child-; Child,-Preschool; Mental-Retardation-psychology

MAJOR MeSH HEADINGS: *Child-Behavior-Disorders-psychology; *Emotions-; *Social-Adjustment

CHECKTAGS: Comparative-Study; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95168240

UPDATE CODE: 199505

Record 306 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Dermatoglyphic peculiarities in patients with Williams-Beuren syndrome.

AUTHOR(S): Rodewald-A; Pankau-R; Gosch-A; Wessel-A

ADDRESS OF AUTHOR: Institute of Human Biology, University of Hamburg, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Nov 15; 53(3): 227-35

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: The dermatoglyphic patterns of fingertips and palms of 115 patients with Williams-Beuren syndrome (WBS) were analysed and compared with the data from 199 control individuals from Germany. The following combination of dermatoglyphic patterns appears to be characteristic to WBS: an excess of whorls on all fingertips; high termination values of the main lines D, B, and A; frequent absence of C triradius (C0); high frequencies of ulnar loops on the hypothenar and distal loops on the 2nd, 3rd, and 4th interdigital areas, of distal axial triradii t", and of abnormal palmar creases such as simian crease and Sydney lines. The combination of fingertip and palmar patterns expressed by a "Log.Score-Index," provides a high degree of discrimination between the WBS patients (92%) and the control group (88%). A "phantom picture" for WBS was constructed, which can be used for its diagnosis.

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-pathology; Case-Control-Studies; Chi-Square-Distribution; Face-abnormalities; Genes,-Dominant; Heart-Defects,-Congenital-diagnosis; Heart-Defects,-Congenital-genetics; Logistic-Models; Mental-Retardation-diagnosis; Mental-Retardation-genetics; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Dermatoglyphics-

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95160032

UPDATE CODE: 199505

Record 307 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects.

AUTHOR(S): Plissart-L; Borghgraef-M; Volcke-P; Van-den-Berghe-H; Fryns-JP

ADDRESS OF AUTHOR: Centre for Human Genetics, University of Lueven, Belgium.

SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1994 Aug; 46(2): 161-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: DENMARK

ABSTRACT: In order to evaluate the medical, psychological and behavioral aspects of Williams-Beuren syndrome in adulthood, data were collected on 11 patients aged 17 to 66 years. The medical data did not confirm previous reports of significant morbidity. All adults were found to have a moderate or severe degree of mental handicap. They showed the same psychological profile as found in children: good verbal abilities, poor motor abilities, problems with sequencing and with performance tasks. The adults we evaluated showed little disturbing behavior in comparison to other mentally retarded subjects. They achieved a good level of autonomy. The majority lived at home with one or both parents and attended a day centre.

MINOR MESH HEADINGS: Activities-of-Daily-Living; Adolescence-; Adult-; Aged-; Intelligence-genetics; Mental-Retardation-physiopathology; Mental-Retardation-psychology; Middle-Age; Questionnaires-; Syndrome-

MAJOR MeSH HEADINGS: *Behavior-physiology; *Mental-Retardation-genetics

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95120891

UPDATE CODE: 199504

Record 308 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome.

AUTHOR(S): Wessel-A; Pankau-R; Kececioglu-D; Ruschewski-W; Bursch-JH

ADDRESS OF AUTHOR: Clinic for Pediatric Cardiology, Georg-August-University, Gottingen, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Sep 1; 52(3): 297-301

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: The diagnostic criteria of the Williams-Beuren syndrome (WBS) were established almost 3 decades ago. Until now there has been little knowledge about the natural and post-surgical history of vascular lesions in this syndrome. In order to evaluate the long term follow-up of aortic and pulmonary vascular lesions, we have analysed the catheterization data, angiocardiograms, and Doppler-echo measurements in 59 patients who were seen at least twice in our institution between 1961 and 1993. Their follow-up periods ranged from 2.1 to 28.2 years. Of 45 patients with supravalvular aortic stenosis (SVAS) with a mean follow-up period of 12.9 years, it became evident that pressure gradients of less than 20 mm Hg in infancy generally remained unchanged during the first two decades of life. Pressure gradients exceeding 20 mm Hg increased from an average of 35.5 mm Hg to 52.7 mm Hg in 13 patients. Of these, 8 required surgical relief of the narrowing. In 7 patients aortic hypoplasia was documented. In 5 of them the caliber of the aorta showed a tendency towards normalisation within a period of 11.9 to 23.9 years. Of 6 individuals with aortic hypoplasia and surgical relief of SVAS, 4 patients developed restenosis at the distal end of the aortoplasty patch. In contrast, 9 patients with operated SVAS-but without aortic hypoplasia-remained free of restenosis over a period of 11 years (mean). Coarctation occurred in 4/59 patients; restenosis was seen in 2 after 5 and 16 years. Peripheral pulmonary stenosis was followed in 23 patients over 14.4 years (mean).(ABSTRACT TRUNCATED AT 250 WORDS)

MINOR MESH HEADINGS: Adolescence-; Adult-; Age-Factors; Aorta-abnormalities; Aortic-Coarctation-complications; Aortic-Coarctation-etiology; Aortic-Coarctation-physiopathology; Aortic-Valve-Stenosis-complications; Aortic-Valve-Stenosis-physiopathology; Blood-Pressure; Child-; Child,-Preschool; Face-abnormalities; Infant-; Infant,-Newborn; Mental-Retardation-complications; Prognosis-; Pulmonary-Valve-Stenosis-complications; Pulmonary-Valve-Stenosis-physiopathology; Syndrome-

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-etiology; *Pulmonary-Valve-Stenosis-etiology

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95109566

UPDATE CODE: 199504

Record 309 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Aortic dissection as complication of supravalvular aortic stenosis.

AUTHOR(S): Van-Son-JA; Danielson-GK; Edwards-WD

ADDRESS OF AUTHOR: Division of Thoracic and Cardiovascular Surgery, Mayo Clinic, Rochester, Minnesota.

SOURCE (BIBLIOGRAPHIC CITATION): J-Cardiovasc-Surg-Torino. 1994 Oct; 35(5): 399-401

INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9509

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ITALY

ABSTRACT: A 2-year-old patient with diffuse supravalvular aortic stenosis and the Williams-Beuren syndrome at autopsy was found to have dissection of the ascending aorta in addition to severe coronary artery disease and microfocal myocardial fibrosis. These findings emphasize the need for early surgical intervention in supravalvular aortic stenosis.

MINOR MESH HEADINGS: Aneurysm,-Dissecting-pathology; Aneurysm,-Dissecting-surgery; Aorta,-Thoracic-pathology; Aortic-Aneurysm,-Thoracic-pathology; Aortic-Aneurysm,-Thoracic-surgery; Aortic-Valve-Stenosis-pathology; Aortic-Valve-Stenosis-surgery; Child,-Preschool; Coronary-Disease-pathology; Fatal-Outcome; Syndrome-

MAJOR MeSH HEADINGS: *Aneurysm,-Dissecting-etiology; *Aortic-Aneurysm,-Thoracic-etiology; *Aortic-Valve-Stenosis-complications

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES

MEDLINE ACCESSION NUMBER: 95088240

UPDATE CODE: 199503

Record 310 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [The ups and downs of Williams-Beuren syndrome (editorial)]

ORIGINAL TITLE: Les vicissitudes du syndrome de Williams-Beuren.

AUTHOR(S): Dupuis-C; Delga-JM; Delga-I

SOURCE (BIBLIOGRAPHIC CITATION): Arch-Pediatr. 1994 Jul; 1(7): 629-32

INTERNATIONAL STANDARD SERIAL NUMBER: 0929-693X

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH

COUNTRY OF PUBLICATION: FRANCE

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Aortic-Valve-Stenosis-diagnosis; Child,-Preschool; Hypercalcemia-diagnosis; Mental-Retardation-diagnosis; Syndrome-

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-complications; *Hypercalcemia-complications

CHECKTAGS: Human

PUBLICATION TYPE: EDITORIAL

MEDLINE ACCESSION NUMBER: 95079012

UPDATE CODE: 199503

Record 311 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Natural history of body mass index in Williams-Beuren syndrome.

AUTHOR(S): Pankau-R; Partsch-CJ; Neblung-A; Gosch-A; Wessel-A; Schaub-J

ADDRESS OF AUTHOR: Department of Pediatrics, University Hospital of Kiel, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Aug 1; 52(1): 51-4

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Body mass index (BMI) is a useful tool for the investigation of obesity or underweight. It follows a typical pattern throughout childhood. During the first few years of life underweight due to feeding problems and gastrointestinal disturbances is considered a common sign in Williams-Beuren syndrome (WBS), whereas obesity is frequently reported in WBS adults. Systematic studies on weight gain and body mass index in WBS do not exist. Therefore, we studied weight gain relative to height expressed as BMI in 82 WBS girls (459 measurements of weight and height) and in 104 WBS boys (562 measurements). At birth BMI was significant lower in WBS than in normal infants in both sexes (P < 0.0001). During the first months of life, mean BMI showed a catch-up from the 3rd to the 10th-50th centiles in WBS infants relative to the normal standards. The further course of BMI was almost parallel to normal development. In addition, a gradual relative increase to the 50th centile of normal was seen in both sexes. In conclusion, weight gain during the first year of life was sufficient. Feeding and gastrointestinal problems seem not to have a severe impact on weight gain in infancy. Until adulthood weight relative to height continuously reached the 50th centile of normal. Thus, obesity is not a common finding in young adults with WBS. The results of this study may serve as a disease-specific reference of BMI development in WBS patients.

MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Cohort-Studies; Infant-; Infant,-Newborn; Mental-Retardation-physiopathology; Obesity-physiopathology; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Body-Mass-Index; *Body-Weight-physiology

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95068070

UPDATE CODE: 199502

Record 312 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [A successful surgical case of supravalvular aortic stenosis with Williams syndrome: the investigations of the procedures]

AUTHOR(S): Ichihara-T; Watanabe-T; Yasuura-K; Tanaka-M; Abe-T; Tsuji-A; Nagashima-M

ADDRESS OF AUTHOR: Department of Thoracic Surgery, Nagoya University School of Medicine, Japan.

SOURCE (BIBLIOGRAPHIC CITATION): Kyobu-Geka. 1994 Oct; 47(11): 929-33

INTERNATIONAL STANDARD SERIAL NUMBER: 0021-5252

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH

COUNTRY OF PUBLICATION: JAPAN

ABSTRACT: We experienced a successful surgical case in which a 3-year-old boy with a characteristic elfin face, heart murmur, and mental retardation, underwent extended patch aortoplasty using equine pericardium for congenital supravalvular aortic stenosis. The aortography performed before operation, and demonstrated diffuse stenosis just above the aortic valve, which was a typical hour-glass type. The preoperative peak systolic pressure gradient between the left ventricle and ascending aorta was 120 mmHg, and was improved postoperatively. In this procedure only one cusp was incised, resulting in no deformity of the aortic valve and no obstruction of coronary arteries. In conclusion this method was excellent for the diffuse type of supravalvular aortic stenosis.

MINOR MESH HEADINGS: Aorta-surgery; Aortic-Valve-Stenosis-congenital; Child,-Preschool; English-Abstract; Mental-Retardation; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Aortic-Valve-Stenosis-surgery; *Blood-Vessel-Prosthesis-methods

CHECKTAGS: Case-Report; English-Abstract; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95056746

UPDATE CODE: 199502

Record 313 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Molecular pathology of the elastic fibers.

AUTHOR(S): Christiano-AM; Uitto-J

ADDRESS OF AUTHOR: Department of Dermatology, Jefferson Medical College, Philadelphia, PA 19107-5541.

SOURCE (BIBLIOGRAPHIC CITATION): J-Invest-Dermatol. 1994 Nov; 103(5 Suppl): 53S-57S

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-202X

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Elastic fibers form a network that contributes to the elasticity and resilience of tissues such as the skin. Histopathologic and ultrastructural abnormalities in the elastic fibers have been observed in several diseases of the skin and other tissues. Recent cloning of several genes involved in elastic fiber architecture has lead to the approach of the study of elastic fiber genodermatoses through molecular analysis. However, in genodermatoses, such as pseudoxanthoma elasticum, many of the genes encoding elastic fiber components have been excluded by genetic linkage analysis. In recent years, mutations in several of the genes encoding elastic fiber proteins have been demonstrated in other diseases. These include mutations in the fibrillin 1 gene in the Marfan syndrome, and genetic linkage of congenital contractural arachnodactyly to fibrillin 2, and, most recently, demonstration of abnormalities in the Menkes syndrome gene in X-linked cutis laxa. The first disorders to involve mutations in the elastin gene itself are, surprisingly, cardiovascular and neurobehavioral disorders, such as supravalvular aortic stenosis and Williams syndrome. These findings suggest that additional, as yet undiscovered, components of the elastic fiber network in the skin may hold the key to unraveling the molecular basis of the elastin-related genodermatoses.

MINOR MESH HEADINGS: DNA,-Recombinant; Elastin-genetics; Gene-Expression-Regulation; Genes,-Structural; Genetics,-Biochemical; Hereditary-Diseases-genetics; Linkage-Genetics; Polymorphism-Genetics

MAJOR MeSH HEADINGS: *Elastic-Tissue-physiopathology; *Skin-Diseases-genetics

CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL

CONTRACT OR GRANT NUMBERS: AR28450ARNIAMS

CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3

NAME OF SUBSTANCE: DNA,-Recombinant; Elastin

MEDLINE ACCESSION NUMBER: 95052809

UPDATE CODE: 199502

Record 314 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Williams syndrome--oral presentation of 45 cases.

AUTHOR(S): Hertzberg-J; Nakisbendi-L; Needleman-HL; Pober-B

ADDRESS OF AUTHOR: Department of Dentistry, Children's Hospital, Boston, MA 02115.

SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Dent. 1994 Jul-Aug; 16(4): 262-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0164-1263

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Forty-five patients with Williams syndrome (WS) were evaluated for oral abnormalities. The mean age of the patients was 9.25 years, the median age was 6.7 years, and the majority (62.2%) were male. Hypodontia was present in 11.1% of the patients. Abnormal tooth morphology was noted in 12.5% of the primary dentitions and 40.7% of the permanent dentitions. With the exception of the primary mandibular central incisors of males, all mesiodistal incisor crown dimensions were statistically significantly smaller when compared with norms (P < 0.05). At least one hypoplastic enamel defect was present in 9.4% of patients with primary teeth and in 18.5% with permanent teeth. No patients exhibited generalized enamel hypoplasia. More than half of the patients (59.1%) were both caries and restoration free, while only 13.6% presented with clinically active caries. Tongue thrusting was present in 67.7% of the sample, while more than 50% of the patients present with excessive interdental spacing. Patients exhibited a higher than normal prevalence of Class II and III occlusions, open and deep bites and anterior crossbites. No single dental finding was pathognomonic of WS, however two constellations of findings, each occurring in approximately one-third of the sample, were observed: 1) microdontia, anterior crossbite, tongue thrusting, and excessive interdental spacing, and 2) microdontia, deep or open bite, and excessive interdental spacing.

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Adolescence-; Adult-; Anodontia-pathology; Aortic-Valve-Stenosis; Child-; Child,-Preschool; Deglutition-Disorders-physiopathology; Dental-Caries-pathology; Dental-Enamel-Hypoplasia-pathology; Facial-Expression; Hypercalcemia-; Infant-; Jaw-Relation-Record; Malocclusion-pathology; Malocclusion-physiopathology; Mental-Retardation; Syndrome-; Tongue-Habits; Vertical-Dimension

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-pathology; *Tooth-Abnormalities-pathology

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL

MEDLINE ACCESSION NUMBER: 95023307

UPDATE CODE: 199501

SUBSET: DENTAL

Record 315 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Rupture of inferior phrenic artery aneurysm. An unusual complication of mesenteric arteritis due to postcoarctectomy syndrome.

AUTHOR(S): Shirai-T; Amano-J; Fujii-N; Hirabayashi-S; Suzuki-A

ADDRESS OF AUTHOR: Department of Thoracic and Cardiovascular Surgery, Hokushin General Hospital, Tokyo, Japan.

SOURCE (BIBLIOGRAPHIC CITATION): Chest. 1994 Oct; 106(4): 1290-1

INTERNATIONAL STANDARD SERIAL NUMBER: 0012-3692

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Postcoarctectomy syndrome was developed in a boy with Williams syndrome. Angiogram revealed widespread changes of visceral arteries and extravasation of the contrast material from the right inferior phrenic artery. Emergency laparotomy was successful. This unusual complication makes clear that the mesenteric arteritis after coarctectomy can cause aneurysm with a risk of rupture.

MINOR MESH HEADINGS: Abnormalities,-Multiple-surgery; Child-; Disseminated-Intravascular-Coagulation-etiology; Rupture,-Spontaneous; Syndrome-

MAJOR MeSH HEADINGS: *Aneurysm,-Ruptured-etiology; *Aortic-Coarctation-surgery; *Arteritis-complications; *Mesenteric-Arteries; *Postoperative-Complications

CHECKTAGS: Case-Report; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 95009015

UPDATE CODE: 199501

SUBSET: AIM

Record 316 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Hormonal regulation in children and adults with Williams-Beuren syndrome.

AUTHOR(S): Partsch-CJ; Pankau-R; Blum-WF; Gosch-A; Wessel-A

ADDRESS OF AUTHOR: Department of Pediatrics, University of Kiel, Germany.

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 Jul 1; 51(3): 251-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Short stature is found in about 50% of children with Williams-Beuren syndrome (WBS). Disease-specific growth curves for the syndrome showed the presence of a pubertal growth spurt in both sexes. Detailed investigations on the hormonal regulation in patients with WBS have not been performed. We studied plasma gonadotropins, sex steroids, adrenal androgens, and insulin-like growth factors (IGF-I and IGF-II) and their binding protein 3 (IGFBP-3) in a large number of WBS patients from infancy to adulthood (n = 23 females, n = 33 males). In most WBS patients, basal LH and FSH levels were within normal limits for age and pubertal stage. Nevertheless, elevated levels for basal LH and FSH were found in 35 and 44% of girls and 3 and 33% of boys, respectively. Estradiol and testosterone levels were elevated in 9.5 and 15.4% of patients, respectively. Dehydroepiandrosterone sulfate levels were elevated for age and pubertal stage in 30% of the girls and in 39% of the boys. IGF-I was within the reference range in both sexes except for 3 patients who showed slightly decreased levels of IGF-I. In 9 of 43 patients, IGF-II levels were decreased below normal. In contrast, 46% of the IGFBP-3 levels were increased above the reference range. From the 18 patients who underwent GnRH testing, five of six adults showed markedly increased basal and stimulated FSH levels and in most cases also elevated LH levels.(ABSTRACT TRUNCATED AT 250 WORDS)

MINOR MESH HEADINGS: Adolescence-; Adult-; Androsterone-blood; Child-; Child,-Preschool; Dwarfism-blood; Estradiol-blood; FSH-blood; Gonadorelin-blood; Infant-; Insulin-Like-Growth-Factor-I-analysis; LH-blood; Mental-Retardation-blood; Mental-Retardation-physiopathology; Middle-Age; Pituitary-Adrenal-System-physiopathology; Somatotropin-blood; Syndrome-; Testosterone-blood

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-physiopathology; *Dwarfism-physiopathology; *Hormones-blood; *Hypothalamo-Hypophyseal-System-physiopathology

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

CAS REGISTRY NUMBER OR EC NUMBER: 0; 33515-09-2; 50-28-2; 53-41-8; 57-85-2; 67763-96-6; 9002-67-9; 9002-68-0; 9002-72-6

NAME OF SUBSTANCE: Hormones; Gonadorelin; Estradiol; Androsterone; Testosterone; Insulin-Like-Growth-Factor-I; LH; FSH; Somatotropin

MEDLINE ACCESSION NUMBER: 94354232

UPDATE CODE: 199412

Record 317 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Williams syndrome. Considerations on an unusual case]

ORIGINAL TITLE: Sindrome di Williams. Considerazioni su un caso insolito.

AUTHOR(S): Alpigiani-MG; Franzone-G; Puleo-MG; Carpi-A; Iester-A

ADDRESS OF AUTHOR: Ia Clinica Pediatrica, Istituto G. Gaslini, Genova, Italia.

SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Med-Chir. 1994 Jan-Feb; 16(1): 85-6

INTERNATIONAL STANDARD SERIAL NUMBER: 0391-5387

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH

COUNTRY OF PUBLICATION: ITALY

ABSTRACT: We report one case of WS, who came at our first observation at age of eight for mental retardation and congenial cardiopathy of unknown origin. Echocardiography and Doppler examination showed immediately isthmic aortic stenosis, and therefore aortic plastic surgery was performed, with a good post-operative result. The case aroused the interest of the Authors, owing to the late diagnosis of aortic coarctation, which, however, did not produce hemodynamic alteration.

MINOR MESH HEADINGS: Angiocardiography-; Aortic-Coarctation-complications; Aortic-Coarctation-diagnosis; Aortic-Valve-Stenosis-diagnosis; Aortic-Valve-Stenosis-surgery; Child-; Echocardiography-; English-Abstract; Syndrome-

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-complications; *Facial-Expression; *Mental-Retardation-complications

CHECKTAGS: Case-Report; English-Abstract; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94301877

UPDATE CODE: 199410

Record 318 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Pathology of coronary arteries, myocardium, and great arteries in supravalvular aortic stenosis. Report of five cases with implications for surgical treatment.

AUTHOR(S): van-Son-JA; Edwards-WD; Danielson-GK

ADDRESS OF AUTHOR: Division of Thoracic and Cardiovascular, Mayo Clinic, Rochester, Minn 55905.

SOURCE (BIBLIOGRAPHIC CITATION): J-Thorac-Cardiovasc-Surg. 1994 Jul; 108(1): 21-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-5223

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Among five patients with supravalvular aortic stenosis in whom autopsy tissues were available, all were male, 1 1/2 to 39 years old (mean 10 years, median 3 years), and the four children had Williams-Beuren syndrome (two familial, two sporadic). Medial thickening and dysplasia (disorganization) characterized the aortic sinotubular junction of three patients with discrete disease and the entire ascending aorta and arch branches of the two with diffuse disease. Medial dysplasia also involved the pulmonary arteries in each case, but less severely than the aorta. Dysplasia of coronary arteries was observed in all five hearts and was more obstructive proximally than distally, in cases with diffuse than discrete aortic disease, and in the adult than in the two children with discrete supravalvular aortic stenosis. All major epicardial arteries were involved, without predilection for any particular vessel. In contrast to the great arteries, coronary artery dysplasia involved all three layers, not just the media. To varying degrees, vessels showed intimal hyperplasia, fibrosis, and disorganization (dysplasia); disruption and loss of the internal elastic membrane, with indistinct intimal-medial junctions; medial hypertrophy and dysplasia; and adventitial fibroelastosis. In severe cases, the microscopic structure resembled that of the ductus arteriosus. Acute intramedial dissections were observed in the ascending aorta and distal right coronary artery in one patient each. Chronic microfocal ischemic fibrosis was identified in the subendocardium and papillary muscles of the left ventricle in four patients, and the adult patient also had an acute myocardial infarction. In summary, these findings emphasize the extraaortic extent of supravalvular aortic stenosis and the development of ischemic heart disease even in childhood. The presence of severe coronary obstruction in the adult with discrete aortic disease suggests that chronic high pulsatile coronary blood pressure may favor the proliferation of dysplastic tissue. Early surgical intervention may minimize the degree of proliferation, as well as allow regression of left ventricular hypertrophy, thereby lessening the risk of myocardial ischemia and aortic dissection.

MINOR MESH HEADINGS: Adolescence-; Adult-; Aortic-Valve-Stenosis-surgery; Arteries-pathology; Child-; Child,-Preschool; Infant-

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-pathology; *Coronary-Vessels-pathology; *Myocardium-pathology

CHECKTAGS: Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94301016

UPDATE CODE: 199410

SUBSET: AIM

Record 319 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Hyperacusis and Williams syndrome.

AUTHOR(S): Nigam-A; Samuel-PR

ADDRESS OF AUTHOR: Department of Otolaryngology, Royal Infirmary, Sunderland.

SOURCE (BIBLIOGRAPHIC CITATION): J-Laryngol-Otol. 1994 Jun; 108(6): 494-6

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2151

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: Abnormal sensitivity to environmental sounds is a short-term feature often observed following insertion of grommets. Here we describe a child with this symptom who was found to have Williams syndrome, a condition in which hyperacusis is observed in 95 per cent of patients.

MINOR MESH HEADINGS: Infant-; Middle-Ear-Ventilation; Otitis-Media-surgery; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-pathology; *Facial-Expression; *Growth-Disorders-pathology; *Hearing-Disorders-pathology; *Heart-Defects,-Congenital-pathology

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94300202

UPDATE CODE: 199410

SUBSET: AIM

Record 320 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Evidence from two genetic syndromes for a dissociation between verbal and visual-spatial short-term memory.

AUTHOR(S): Wang-PP; Bellugi-U

ADDRESS OF AUTHOR: Laboratory for Cognitive Neuroscience, Salk Institute for Biological Studies, La Jolla, CA 92037.

SOURCE (BIBLIOGRAPHIC CITATION): J-Clin-Exp-Neuropsychol. 1994 Apr; 16(2): 317-22

INTERNATIONAL STANDARD SERIAL NUMBER: 0168-8634

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: NETHERLANDS

ABSTRACT: Williams and Down syndromes, two genetic syndromes of abnormal neurodevelopment, are characterized by specific neuropsychological profiles and unique patterns of brain morphology. We find that the superior language ability of subjects with Williams syndrome is accompanied by significantly better performance on a verbal short-term memory task. Conversely, subjects with Down syndrome perform significantly better on a visual-spatial short-term memory task. This double dissociation provides neurogenetic evidence for the distinction between short-term storage for verbal and for visual-spatial stimuli.

MINOR MESH HEADINGS: Adolescence-; Attention-; Child-; Down-Syndrome-psychology; Mental-Retardation-psychology; Psychomotor-Performance; Serial-Learning; Wechsler-Scales

MAJOR MeSH HEADINGS: *Down-Syndrome-genetics; *Memory,-Short-Term; *Mental-Retardation-genetics; *Pattern-Recognition,-Visual; *Verbal-Learning

CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: 5R01HD26022HDNICHD; 5R01DC00146DCNIDCD; 1P01DC01289DCNIDCD

MEDLINE ACCESSION NUMBER: 94292579

UPDATE CODE: 199410

Record 321 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Cytoarchitectonic anomalies in a genetically based disorder: Williams syndrome.

AUTHOR(S): Galaburda-AM; Wang-PP; Bellugi-U; Rossen-M

ADDRESS OF AUTHOR: Department of Neurology, Charles A. Dana Research Laboratories, Beth Israel Hospital, Boston, MA.

SOURCE (BIBLIOGRAPHIC CITATION): Neuroreport. 1994 Mar 21; 5(7): 753-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0959-4965

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: ENGLAND

ABSTRACT: We report on cytoarchitectonic neocortical findings in a patient with Williams syndrome (WS), a rare genetic disorder resulting in characteristic facies, heart defect, other connective tissue anomalies, and a unique neurobehavioral profile. Cytoarchitectonic anomalies include exaggerated horizontal organization of neurons within layers, most striking in area 17; increased cell packing density throughout brain regions; abnormally clustered and oriented neurons. Overall, posterior forebrain areas were markedly diminished in volume. The results suggest that brain anomalies may relate to the extreme visuospatial deficit in WS, the dysregulation of apoptotic cell death, and the genetic basis of WS, a hemizygous deletion including the elastin locus on chromosome 7. This case provides opportunities for linking brain findings to cognitive deficits and their genetic underpinnings.

MINOR MESH HEADINGS: Adult-; Diseases-in-Twins; Mental-Retardation-psychology; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Brain-pathology; *Face-pathology; *Heart-Defects,-Congenital-complications; *Mental-Retardation-complications; *Mental-Retardation-pathology

CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: PO1HD20806HDNICHD; NS27119NSNINDS; RO1ND26022

MEDLINE ACCESSION NUMBER: 94289613

UPDATE CODE: 199410

Record 322 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Radioulnar synostosis in Williams syndrome: a historical overview [letter; comment]

COMMENTS: Comment on: Am J Med Genet 1993 Mar 15;45(6):783

AUTHOR(S): Bzduch-V

SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1994 May 1; 50(4): 386

INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

MINOR MESH HEADINGS: Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Radius-abnormalities; *Synostosis-; *Ulna-abnormalities

CHECKTAGS: Human

PUBLICATION TYPE: COMMENT; LETTER; REVIEW; REVIEW-OF-REPORTED-CASES

MEDLINE ACCESSION NUMBER: 94270416

UPDATE CODE: 199409

Record 323 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Myopathy, cerebellar ataxia and Williams syndrome like features in siblings]

AUTHOR(S): Nishina-M; Kinoshita-M

ADDRESS OF AUTHOR: Fourth Department of Internal Medicine, Toho University.

SOURCE (BIBLIOGRAPHIC CITATION): Rinsho-Shinkeigaku. 1994 Feb; 34(2): 157-62

INTERNATIONAL STANDARD SERIAL NUMBER: 0009-918X

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH

COUNTRY OF PUBLICATION: JAPAN

ABSTRACT: Two female cases, 23- and 21-year-old, of supravalvular aortic stenosis associated with cerebellar hypoplasia, retinitis pigmentosa and myopathy were reported. No family history of mental retardation and cardiovascular anomalies was found. There was no consanguinity between the parents. Pregnancy, labor and delivery were reported to be uncomplicated. When they visited to our hospital at the age of 13 and 11 years, they had short stature, characteristic facial appearance (eg, wide mouth, elongated philtrum, low nasal bridge and broad forehead) and supravalvular aortic stenosis. Neurological examination disclosed mental retardation, retinitis pigmentosa, muscle wasting and contracture of bilateral knee and ankle joints. Gait was unsteady and bradykinetic. Their smooth pursuiting ocular movements were saccadic. No nystagmus was recorded. Mild intention tremor was present. The muscles were slightly hypotonic, but deep tendon reflexes were hyperactive in the lower extremities. The sensory system was normal. Results of chromosome analysis and urine amino acid analysis were normal. The serum creatine kinase was elevated to 1,000-3,000 U. Muscle biopsy revealed nonspecific myopathic changes such as variability of fiber diameter in both fiber types. Neither cell infiltration nor deposits of fat or glycogen was found. Cranial MRIs performed at the age of 22 and 20 years disclosed cerebellar hypoplasia and moderate enlargement of the fourth ventricle. The two cases resembled clinically those of Williams syndrome, but the MRI findings were not consistent with those of the syndrome. The disorder is considered to be either Williams syndrome complicated by some other relatively rare clinical features, or another heredofamilial disease partly resembling Williams syndrome.

MINOR MESH HEADINGS: Adult-; Aortic-Valve-Stenosis-genetics; Cerebellar-Ataxia-genetics; English-Abstract; Family-Health; Mental-Retardation-genetics; Muscular-Diseases-genetics; Syndrome-

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-complications; *Cerebellar-Ataxia-complications; *Face-abnormalities; *Mental-Retardation-complications; *Muscular-Diseases-complications

CHECKTAGS: Case-Report; English-Abstract; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94252002

UPDATE CODE: 199409

Record 324 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Pulmonary hypertension associated with portal hypertension in a child with Williams syndrome--a case report.

AUTHOR(S): Land-SD; Shah-MD; Berman-WF

ADDRESS OF AUTHOR: Department of Pathology, Medical College of Virginia, Richmond 23298.

SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Pathol. 1994 Jan-Feb; 14(1): 61-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0277-0938

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: A 14-year-old white female with Williams syndrome and portal hypertension presented in shock; at autopsy she was found to have grade II to VI vascular changes of pulmonary hypertension. This case demonstrates the association of portal hypertension and pulmonary hypertension in a pediatric patient.

MINOR MESH HEADINGS: Abnormalities,-Multiple-physiopathology; Adolescence-; Syndrome-

MAJOR MeSH HEADINGS: *Hypertension,-Portal-complications; *Hypertension,-Pulmonary-complications

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES

MEDLINE ACCESSION NUMBER: 94211703

UPDATE CODE: 199407

Record 325 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

AUTHOR(S): Ewart-AK; Jin-W; Atkinson-D; Morris-CA; Keating-MT

ADDRESS OF AUTHOR: Department of Human Genetics, University of Utah, Salt Lake City 84112.

SOURCE (BIBLIOGRAPHIC CITATION): J-Clin-Invest. 1994 Mar; 93(3): 1071-7

INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9738

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: Supravalvular aortic stenosis (SVAS) is an inherited vascular disease that can cause heart failure and death. SVAS can be inherited as an autosomal dominant trait or as part of a developmental disorder, Williams syndrome (WS). In recent studies we presented evidence suggesting that a translocation disrupting the elastin gene caused SVAS in one family while deletions involving the entire elastin locus caused WS. In this study, pulsed-field, PCR, and Southern analyses showed that a 100-kb deletion of the 3' end of the elastin gene cosegregated with the disease in another SVAS family. DNA sequence analysis localized the breakpoint between elastin exons 27 and 28, the same region disrupted by the SVAS-associated translocation. These data indicate that mutations in the elastin gene cause SVAS and suggest that elastin exons 28-36 may encode critical domains for vascular development.

MINOR MESH HEADINGS: Base-Sequence; Electrophoresis,-Gel,-Pulsed-Field; Molecular-Sequence-Data; Mutation-

MAJOR MeSH HEADINGS: *Aortic-Subvalvular-Stenosis-genetics; *Elastin-genetics; *Gene-Deletion

CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.

PUBLICATION TYPE: JOURNAL-ARTICLE

CONTRACT OR GRANT NUMBERS: RO1HL4807HLNHLBI; MO1RR00064RRNCRR

CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3

NAME OF SUBSTANCE: Elastin

MEDLINE ACCESSION NUMBER: 94179451

UPDATE CODE: 199406

SECONDARY SOURCE IDENTIFIER: GENBANK/L23859

SUBSET: AIM

Record 326 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Occurrence of non-Hodgkin's lymphoma in Williams syndrome--case report.

AUTHOR(S): Felice-PV; Ritter-SD; Anto-J

ADDRESS OF AUTHOR: Syosset Community Hospital, Department of Internal Medicine, New York.

SOURCE (BIBLIOGRAPHIC CITATION): Angiology. 1994 Feb; 45(2): 167-70

INTERNATIONAL STANDARD SERIAL NUMBER: 0003-3197

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: The authors present a case of a twenty-nine-year-old woman with Williams syndrome and non-Hodgkin's lymphoma. The patient had been told that she had had an atrial septal defect from the time of her birth.

MINOR MESH HEADINGS: Adult-; Aortic-Valve-Stenosis-genetics; Blood-Pressure; Heart-Catheterization; Lymphoma,-B-Cell-diagnosis; Lymphoma,-B-Cell-surgery; Mediastinal-Neoplasms-diagnosis; Mediastinal-Neoplasms-surgery; Mental-Retardation-complications; Mental-Retardation-genetics; Mitral-Valve-Prolapse-genetics; Syndrome-; Tomography,-X-Ray-Computed

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-complications; *Face-abnormalities; *Lymphoma,-B-Cell-etiology; *Mediastinal-Neoplasms-etiology; *Mitral-Valve-Prolapse-complications

CHECKTAGS: Case-Report; Female; Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94175333

UPDATE CODE: 199406

Record 327 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Williams-Beuren syndrome in Norway]

ORIGINAL TITLE: Williams-Beurens syndrom i Norge.

AUTHOR(S): Bjornstad-PG

ADDRESS OF AUTHOR: Barnehjerteseksjonen Rikshospitalet, Oslo.

SOURCE (BIBLIOGRAPHIC CITATION): Tidsskr-Nor-Laegeforen. 1994 Jan 10; 114(1): 25-8

INTERNATIONAL STANDARD SERIAL NUMBER: 0029-2001

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: NORWEGIAN; NON-ENGLISH

COUNTRY OF PUBLICATION: NORWAY

ABSTRACT: The author describes the Williams-Beuren syndrome and the cases of 57 patients in an attempt to increase awareness of the syndrome, which probably is underdiagnosed. Its characteristic features are a combination of a special facial appearance and a mental condition: The face typically shows a broad, flattened upper lip, small chin, and hypoplasia of teeth, often strabism, flattened nasal bridge and fullness around the eyes. Mentally the patients appear to be happy, talkative, pleasant children, who are indiscriminatingly friendly and have serious difficulties in concentrating. Only 53% of the patients have an affected heart, of whom 93% have supravalvular aortic stenosis, peripheral pulmonic stenoses or combinations of the two. Nine patients have had heart operations. The facial features in children of different age groups and races are depicted.

MINOR MESH HEADINGS: Abnormalities,-Multiple-epidemiology; Adolescence-; Aortic-Valve-Stenosis-epidemiology; Child-; Child,-Preschool; English-Abstract; Facial-Expression; Infant-; Mental-Retardation-epidemiology; Norway-epidemiology; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Aortic-Valve-Stenosis-diagnosis; *Mental-Retardation-diagnosis

CHECKTAGS: English-Abstract; Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94126794

UPDATE CODE: 199405

Record 328 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: [Problems of small patient groups, illustrated by Williams syndrome]

ORIGINAL TITLE: Sma pasientgruppers problemer, belyst ved Williams' syndrom.

AUTHOR(S): Heiberg-A

SOURCE (BIBLIOGRAPHIC CITATION): Tidsskr-Nor-Laegeforen. 1994 Jan 10; 114(1): 14

INTERNATIONAL STANDARD SERIAL NUMBER: 0029-2001

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: NORWEGIAN; NON-ENGLISH

COUNTRY OF PUBLICATION: NORWAY

MINOR MESH HEADINGS: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-genetics; Aortic-Valve-Stenosis-diagnosis; Aortic-Valve-Stenosis-genetics; Facial-Expression; Hypercalcemia-diagnosis; Hypercalcemia-genetics; Incidence-; Infant-; Mental-Retardation-diagnosis; Mental-Retardation-genetics; Syndrome-

MAJOR MeSH HEADINGS: *Abnormalities,-Multiple; *Aortic-Valve-Stenosis; *Mental-Retardation

CHECKTAGS: Human

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94126790

UPDATE CODE: 199405

Record 329 of 329 in MEDLINE EXPRESS (R) 1994-1996

TITLE: Supravalvular aortic stenosis. Long-term results of surgical treatment.

AUTHOR(S): van-Son-JA; Danielson-GK; Puga-FJ; Schaff-HV; Rastogi-A; Edwards-WD; Feldt-RH

ADDRESS OF AUTHOR: Division of Thoracic and Cardiovascular Surgery, Mayo Clinic, Rochester, Minn 55905.

SOURCE (BIBLIOGRAPHIC CITATION): J-Thorac-Cardiovasc-Surg. 1994 Jan; 107(1): 103-14; discussion 114-5

INTERNATIONAL STANDARD SERIAL NUMBER: 0022-5223

PUBLICATION YEAR: 1994

LANGUAGE OF ARTICLE: ENGLISH

COUNTRY OF PUBLICATION: UNITED-STATES

ABSTRACT: To determine long-term outcome after operation for supravalvular aortic stenosis, we reviewed the case histories of 80 patients who had repair of the localized form (group A) (n = 67) or diffuse form (group B) (n = 13) from 1956 to 1992, including 31 patients with the Williams-Beuren syndrome. Ages ranged from 7 months to 54 years (mean = 12.6 years). Forty-six patients had one or more associated cardiovascular anomalies; the most common was aortic valve stenosis (33.8%). Eighteen patients had 22 previous cardiovascular operations, and 28 patients had one or more additional anomalies repaired during their initial procedure at our institution. In group A, the aortic root was enlarged with a teardrop-shaped patch (n = 61) or a pantaloon-shaped patch (n = 6). In group B, patch enlargement of the aorta was confined to the root (n = 4) or extended into the ascending aorta or aortic arch (n = 7); one patient had a graft placed between the ascending and descending thoracic aorta and one patient had a left ventricular-aortic conduit. There were no deaths in group A; two patients in group B in whom patch enlargement was confined to the aortic root died during the operation (2.5%). Follow-up extended to 33.4 years (mean = 14.2 years); there were five late deaths in group A and one in group B. Survival excluding operative mortality was 94% at 10 years and 91% at 20 years. All patients were in functional class I or II. There was no significant difference between patients with a teardrop-shaped or pantaloon-shaped patch in terms of late gradient, survival, or aortic insufficiency. By Cox multivariate model, the only independent predictor of late death for all patients was associated aortic valve disease (p = 0.02), which was also a risk factor for late reoperation (p = 0.02). In group B, overall survival was better in patients who received an extended patch versus aortic root patch only (p = 0.02). We reached the following conclusions: (1) Associated aortic valve disease was strongly correlated with late death and need for reoperation. (2) Both the teardrop-shaped and pantaloon-shaped patch techniques provide excellent long-term relief of localized supravalvular gradients and preservation of aortic valve competence. (3) In diffuse supravalvular aortic stenosis, aortic enlargement should be extended into the ascending aorta or beyond as required to relieve the gradient; some patients may require a graft or conduit.(ABSTRACT TRUNCATED AT 400 WORDS)

MINOR MESH HEADINGS: Adolescence-; Adult-; Aortic-Valve-Stenosis-complications; Aortic-Valve-Stenosis-mortality; Aortic-Valve-Stenosis-radiography; Aortography-; Child-; Child,-Preschool; Follow-Up-Studies; Heart-Defects,-Congenital-complications; Methods-; Middle-Age; Reoperation-; Survival-Rate

MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-surgery

CHECKTAGS: Female; Human; Male

PUBLICATION TYPE: JOURNAL-ARTICLE

MEDLINE ACCESSION NUMBER: 94111565

UPDATE CODE: 199404

SUBSET: AIM

web contact: pietsch@indiana.edu