Record 201 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Functional analysis of episodic self-injury correlated with recurrent otitis media.
AUTHOR(S): O'Reilly-MF
ADDRESS OF AUTHOR: Department of Psychology, University College Dublin, Belfield, Ireland. moreilly@macollamh.ucd.ie
SOURCE (BIBLIOGRAPHIC CITATION): J-Appl-Behav-Anal. 1997 Spring; 30(1): 165-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-8855
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A functional analysis examined the consequences that maintained episodic self-injury and the relationship between those consequences and otitis media for a child with moderate developmental disabilities. Results indicated that self-injury occurred only during periods of otitis media. Otitis media may have served as an establishing operation related to escape from ambient noise.
MINOR MESH HEADINGS: Adult-; Arousal-; Escape-Reaction; Noise-adverse-effects; Recurrence-; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Otitis-Media-psychology; *Self-Injurious-Behavior-psychology
CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97257518
UPDATE CODE: 199707
Record 202 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23.
AUTHOR(S): Wang-YK; Samos-CH; Peoples-R; Perez-Jurado-LA; Nusse-R; Francke-U
ADDRESS OF AUTHOR: Howard Hughes Medical Institute, Stanford University Medical Center, CA 94305, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 1997 Mar; 6(3): 465-72
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams syndrome (WS) is a developmental disorder with a characteristic personality and cognitive profile that is associated, in most cases, with a 2 Mb deletion of part of chromosome band 7q11.23. By applying CpG island cloning methods to cosmids from the deletion region, we have identified a new gene, called FZD3. Dosage blotting of DNA from 11 WS probands confirmed that it is located within the commonly deleted region. Sequence comparisons revealed that FZD3, encoding a 591 amino acid protein, is a novel member of a seven transmembrane domain receptor family that are mammalian homologs of the Drosophila tissue polarity gene frizzled. FZD3 is expressed predominantly in brain, testis, eye, skeletal muscle and kidney. Recently, frizzled has been identified as the receptor for the wingless (wg) protein in Drosophila. We show that Drosophila as well as human cells, when transfected with FZD3 expression constructs, bind Wg protein. In mouse, the wg homologous Wnt1 gene is involved in early development of a large domain of the central nervous system encompassing much of the midbrain and rostral metencephalon. The potential function of FZD3 in transmitting a Wnt protein signal in the human brain and other tissues suggests that heterozygous deletion of the FZD3 gene could contribute to the WS phenotype.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Cell-Line; Chromosome-Mapping; Cloning,-Molecular; CpG-Islands; Drosophila-melanogaster; Evolution,-Molecular; Gene-Dosage; Membrane-Proteins-chemistry; Membrane-Proteins-metabolism; Mice-; Molecular-Sequence-Data; Pedigree-; Phylogeny-; Receptors,-Cell-Surface-chemistry; Receptors,-Cell-Surface-metabolism; Sequence-Alignment; Sequence-Deletion
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7-genetics; *Membrane-Proteins-genetics; *Proto-Oncogene-Proteins-metabolism; *Receptors,-Cell-Surface-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Animal; 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: R01GM00298GMNIGMS
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0; 117758-26-6
NAME OF SUBSTANCE: frizzled-protein,-insect; FZD3-protein; Membrane-Proteins; Proto-Oncogene-Proteins; Receptors,-Cell-Surface; wingless-protein,-Drosophila
MEDLINE ACCESSION NUMBER: 97227293
UPDATE CODE: 199707
SECONDARY SOURCE IDENTIFIER: GENBANK/U82169
Record 203 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Magnetic resonance imaging of the brain in Williams-Beuren syndrome [letter]
AUTHOR(S): Brinkmann-G; Heller-M; Partsch-CJ; Gosch-A; Pankau-R
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Jan 20; 68(2): 243
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Infant-; Magnetic-Resonance-Imaging; Prospective-Studies
MAJOR MeSH HEADINGS: *Brain-pathology; *Brain-radiography; *Williams-Syndrome-pathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 97180293
UPDATE CODE: 199707
Record 204 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Brief report: response to methylphenidate in two children with Williams syndrome.
AUTHOR(S): Power-TJ; Blum-NJ; Jones-SM; Kaplan-PE
ADDRESS OF AUTHOR: University of Pennsylvania School of Medicine, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Autism-Dev-Disord. 1997 Feb; 27(1): 79-87
INTERNATIONAL STANDARD SERIAL NUMBER: 0162-3257
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Attention-drug-effects; Attention-Deficit-Disorder-with-Hyperactivity-genetics; Attention-Deficit-Disorder-with-Hyperactivity-psychology; Child-; Chromosome-Deletion; Chromosomes,-Human,-Pair-7; Dose-Response-Relationship,-Drug; Double-Blind-Method; Elastin-genetics; Williams-Syndrome-genetics; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Attention-Deficit-Disorder-with-Hyperactivity-drug-therapy; *Central-Nervous-System-Stimulants-therapeutic-use; *Methylphenidate-therapeutic-use; *Williams-Syndrome-drug-therapy
CHECKTAGS: Comparative-Study; Human; Male
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE; RANDOMIZED-CONTROLLED-TRIAL
CAS REGISTRY NUMBER OR EC NUMBER: 0; 113-45-1; 9007-58-3
NAME OF SUBSTANCE: Central-Nervous-System-Stimulants; Methylphenidate; Elastin
MEDLINE ACCESSION NUMBER: 97171354
UPDATE CODE: 199707
Record 205 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Williams syndrome: a guide to diagnosis and treatment.
AUTHOR(S): Gustafson-R; Traub-D
ADDRESS OF AUTHOR: USD Medical School, Rapid City, USA.
SOURCE (BIBLIOGRAPHIC CITATION): S-D-J-Med. 1997 Mar; 50(3): 89-91
INTERNATIONAL STANDARD SERIAL NUMBER: 0038-3317
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome is a congenital disorder characterized by mental retardation, vascular abnormalities including supravalvular aortic stenosis, and a loquacious personality. The genetic etiology of this syndrome has recently been isolated to the seventh chromosome, namely the elastin gene. Initial diagnosis of Williams syndrome rests largely with practitioners who see children in the first two years of a child's life, and the health and longevity of individuals with the disorder may depend heavily on accurate and timely diagnosis. Although often diagnosed in childhood, the adolescent and adult with Williams syndrome may also benefit from the diagnostic skills of an alert physician.
MINOR MESH HEADINGS: Adolescence-; Williams-Syndrome-psychology; Williams-Syndrome-therapy
MAJOR MeSH HEADINGS: *Williams-Syndrome-diagnosis
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97233963
UPDATE CODE: 199706
Record 206 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
AUTHOR(S): Hou-JW; Wang-JK; Wang-TR
ADDRESS OF AUTHOR: Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.
SOURCE (BIBLIOGRAPHIC CITATION): J-Formos-Med-Assoc. 1997 Feb; 96(2): 137-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0929-6646
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: TAIWAN
ABSTRACT: We report two children with typical Williams syndrome facial appearance, growth deficiency and developmental delay. Both had supravalvular aortic stenosis (SVAS) and peripheral pulmonary stenosis (PPS), but no hypercalcemia. Chromosomal study in the first case, a 40-day-old girl, revealed a cytogenetically visible proximal interstitial deletion of the 7q11.22-11.23 segment. Another patient, a 3-year-old boy, with a normal karyotype, had milder phenotype with spontaneous remission of SVAS and PPS. Both patients showed allelic loss of the elastin (ELN) gene, exhibiting a submicroscopic deletion at 7q11.23, which was detected by fluorescence in situ hybridization (FISH). The results support the usefulness of FISH for detection of ELN gene deletion as an initial diagnostic assay for patients with SVAS or Williams syndrome. To our knowledge, these are the first cases of Williams syndrome in Taiwanese patients to be proven clinically, cytogenetically and by molecular analysis.
MINOR MESH HEADINGS: In-Situ-Hybridization,-Fluorescence; Infant,-Newborn
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97225490
UPDATE CODE: 199706
Record 207 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Language acquisition: the acquisition of linguistic structure in normal and special populations.
AUTHOR(S): McDonald-JL
ADDRESS OF AUTHOR: Department of Psychology, Louisiana State University, Baton Rouge 70803, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Annu-Rev-Psychol. 1997; 48: 215-41
INTERNATIONAL STANDARD SERIAL NUMBER: 0066-4308
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: This review examines how language learners master the formal structure of their language. Three possible routes to the acquisition and mastery of linguistic structure are investigated: (a) the use of prosodic and phonological information, which is imperfectly correlated with syntactic units and linguistic classes; (b) the use of function words to syntactically classify co-occurring words and phrases, and the effect of location of function-word processing on structural mastery; and (c) the use of morphology internal to lexical items to determine language structure, and the productive recombination of these subunits in new items. Evidence supporting these three routes comes from normal language acquirers and from several special populations, including learners given impoverished input, learners with Williams syndrome, specific language-impaired learners, learners with Down syndrome, and late learners of first and second languages. Further evidence for the three routes comes from artificial language acquisition experiments and computer simulations.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Computer-Simulation; Infant-; Language-Development-Disorders-psychology; Multilingualism-; Psycholinguistics-
MAJOR MeSH HEADINGS: *Language-Development; *Language-Development-Disorders-diagnosis; *Phonetics-; *Semantics-
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 97198517
UPDATE CODE: 199706
Record 208 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: How common is precocious puberty in patients with Williams syndrome? [letter]
AUTHOR(S): Scothorn-DJ; Butler-MG
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Dysmorphol. 1997 Jan; 6(1): 91-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0962-8827
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Child-; In-Situ-Hybridization,-Fluorescence; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Puberty,-Precocious; *Williams-Syndrome-physiopathology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 97171171
UPDATE CODE: 199705
Record 209 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Picture of the month. William-Beuren syndrome.
AUTHOR(S): Pankau-R; Partsch-CJ; Gosch-A; Winter-M; Wessel-A
ADDRESS OF AUTHOR: Department of Pediatrics, University of Kiel, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Pediatr-Adolesc-Med. 1997 Feb; 151(2): 203-4
INTERNATIONAL STANDARD SERIAL NUMBER: 1072-4710
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Chromosomes,-Human,-Pair-7; Infant-; Middle-Age; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Facies-; *Williams-Syndrome-diagnosis
CHECKTAGS: Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97194442
UPDATE CODE: 199705
SUBSET: AIM
Record 210 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
AUTHOR(S): Brondum-Nielsen-K; Beck-B; Gyftodimou-J; Horlyk-H; Liljenberg-U; Petersen-MB; Pedersen-W; Petersen-MB; Sand-A; Skovby-F; Stafanger-G; Zetterqvist-P; Tommerup-N
ADDRESS OF AUTHOR: John F. Kennedy Institute, Glostrup, Denmark. kbn@kennedy.dk
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Genet. 1997 Jan; 99(1): 56-61
INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6717
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Chromosome-Banding; Chromosome-Mapping; Dinucleotide-Repeats; DNA-chemistry; DNA-genetics; Gene-Deletion; In-Situ-Hybridization,-Fluorescence; Infant-; Karyotyping-; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Elastin-genetics; *Polymorphism-Genetics; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; 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: 97157114
UPDATE CODE: 199704
Record 211 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Mid-aortic syndrome presenting in childhood.
AUTHOR(S): Panayiotopoulos-YP; Tyrrell-MR; Koffman-G; Reidy-JF; Haycock-GB; Taylor-PR
ADDRESS OF AUTHOR: Department of Surgery, Guy's Hospital, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Br-J-Surg. 1996 Feb; 83(2): 235-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0007-1323
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Mid-aortic syndrome (MAS) is an uncommon condition characterized by segmental narrowing of the proximal abdominal aorta and ostial stenosis of its major branches. It is usually diagnosed in young adults, but may present in childhood as a challenging problem. Over the past 20 years 13 patients with MAS have presented to this institution. All had hypertension, four had associated neurofibromatosis, three persistent eosinophilia and three had Williams syndrome. In all cases arteriography showed a smooth segmental narrowing of the abdominal aorta with concomitant stenosis at the origins of the renal arteries. Six children were successfully treated with antihypertensive medication alone. Percutaneous transluminal angioplasty was attempted in two cases with poor result. Surgery was indicated in seven children with refractory hypertension and progressive renal impairment. Techniques used to revascularize the kidneys included thoracoabdominal to infrarenal aortic bypass with renal artery reimplantation, splenorenal bypass, gastroduodenal to renal bypass, aortorenal bypass and autotransplantation.
MINOR MESH HEADINGS: Adolescence-; Anastomosis,-Surgical-methods; Angioplasty,-Transluminal,-Percutaneous-Coronary; Aorta,-Abdominal; Aortic-Diseases-surgery; Aortic-Diseases-therapy; Child-; Child,-Preschool; Constriction,-Pathologic; Hypertension,-Renovascular-drug-therapy; Hypertension,-Renovascular-etiology; Infant-; Neurofibromatoses-etiology; Renal-Artery-Obstruction-etiology; Syndrome-
MAJOR MeSH HEADINGS: *Aortic-Diseases-radiography; *Hypertension,-Renovascular-radiography
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96246977
UPDATE CODE: 199610
SUBSET: AIM
Record 212 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Pulmonary changes in high-resolution spiral CT in Williams-Campbell syndrome]
ORIGINAL TITLE: Lungenveranderungen im hochauflosenden Spiral-CT beim Williams-Campbell-Syndrom.
AUTHOR(S): Pauleit-D; Kreft-B; Rothert-C; Schild-H
ADDRESS OF AUTHOR: Radiologische Klinik, Universitat Bonn.
SOURCE (BIBLIOGRAPHIC CITATION): Rofo-Fortschr-Geb-Rontgenstr-Neuen-Bildgeb-Verfahr. 1996 Dec; 165(6): 589-91
INTERNATIONAL STANDARD SERIAL NUMBER: 0936-6652
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
MINOR MESH HEADINGS: Adult-; Radiography,-Thoracic; Syndrome-
MAJOR MeSH HEADINGS: *Bronchial-Diseases-congenital; *Bronchial-Diseases-radiography; *Bronchiectasis-radiography; *Bronchography-; *Lung-radiography; *Tomography,-X-Ray-Computed-methods
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97157213
UPDATE CODE: 199704
Record 213 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Supravalvular aortic stenosis, pulmonary artery stenosis, and coronary artery stenosis in twins.
AUTHOR(S): Nakanishi-T; Iwasaki-Y; Momma-K; Imai-Y
ADDRESS OF AUTHOR: Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical College, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Cardiol. 1996 Mar-Apr; 17(2): 125-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0172-0643
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Supravalvular aortic stenosis (SVAS) is rare in twins. We report monozygotic twins, both of whom had SVAS, coronary ostial stenosis, and peripheral pulmonary arterial stenosis, but no other phenotypic features of Williams syndrome. One of the twins died suddenly, but the SVAS and the right and left coronary ostial stenoses were enlarged successfully at operation in the other twin.
MINOR MESH HEADINGS: Aortic-Valve-Stenosis-congenital; Aortic-Valve-Stenosis-diagnosis; Cardiac-Surgical-Procedures-methods; Constriction,-Pathologic-congenital; Constriction,-Pathologic-complications; Constriction,-Pathologic-diagnosis; Constriction,-Pathologic-surgery; Coronary-Angiography; Coronary-Disease-congenital; Coronary-Disease-diagnosis; Fatal-Outcome; Infant,-Newborn; Pulmonary-Artery-surgery; Twins,-Monozygotic
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-surgery; *Coronary-Disease-surgery; *Diseases-in-Twins; *Pulmonary-Artery-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 96430375
UPDATE CODE: 199707
Record 214 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Mortality following adenotonsillectomy in a patient with Williams-Campbell syndrome.
AUTHOR(S): Kirse-DJ; Tryka-AF; Seibert-RW; Bower-CM
ADDRESS OF AUTHOR: Department of Otolaryngology-Head and Neck Surgery, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Otolaryngol-Head-Neck-Surg. 1996 Sep; 122(9): 1007-10
INTERNATIONAL STANDARD SERIAL NUMBER: 0886-4470
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Adenotonsillectomy is a commonly performed procedure that can greatly change airway pressure in patients with obstructive sleep patterns related to enlarged tonsils and adenoids. A case is presented in which a patient with a rare subclinical form of Williams-Campbell syndrome died after outpatient adenotonsillectomy. This case report illustrates how patients with structural abnormalities of the tracheobronchial tree can be at increased risk for complications when undergoing surgical procedures that impact airway dynamics.
MINOR MESH HEADINGS: Adenoids-pathology; Ambulatory-Surgical-Procedures; Child-; Fatal-Outcome; Hypertrophy-; Syndrome-; Tonsil-pathology
MAJOR MeSH HEADINGS: *Adenoidectomy-adverse-effects; *Bronchiectasis-congenital; *Tonsillectomy-adverse-effects
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96390582
UPDATE CODE: 199612
SUBSET: AIM
Record 215 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: The genetic basis of pediatric cardiovascular disease.
AUTHOR(S): Strauss-AW; Johnson-MC
ADDRESS OF AUTHOR: Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Semin-Perinatol. 1996 Dec; 20(6): 564-76
INTERNATIONAL STANDARD SERIAL NUMBER: 0146-0005
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Congenital heart disease (CHD), cardiomyopathy, and vasculopathies are common causes of mortality and morbidity in pediatrics, including the perinatal period. This article reviews evidence that single gene defects cause many of the pediatric heart diseases. Vasculopathies discussed include Marfan's syndrome, supravalvar aortic stenosis and Williams' syndrome, Alagille's syndrome, and hereditary telangiectasia, the Osler-Weber-Rendu syndrome. Genetic causes of hypertrophic cardiomyopathy caused by sarcomeric protein mutations (beta-cardiac myosin heavy chain) and of dilated cardiomyopathy secondary to structural protein deficiencies (dystrophin) are presented. Defects in proteins essential for myocardial energy production such as oxidative phosphorylation proteins and fatty acid oxidation genes that cause cardiomyopathy or sudden death are described. Gene ablation models in mice, such as RXR alpha and homeobox gene knockouts, which result in cardiac phenotypes resembling human congenital heart disease, are described. Familial types of human CHD which are being investigated for genetic causes by positional cloning methods and known cytogenetic causes of CHD, including the CATCH-22 syndrome and monosomy at 22q11, are presented. General lessons and principles derived from these new and exciting discoveries in human cardiovascular development are surmised.
MINOR MESH HEADINGS: Child-; Child,-Preschool; DNA,-Mitochondrial; Infant-; Mitochondria,-Heart-chemistry; Mitochondria,-Heart-enzymology; Muscle-Proteins-genetics; Mutation-; Sarcomeres-
MAJOR MeSH HEADINGS: *Cardiovascular-Diseases-genetics
CHECKTAGS: Animal; Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CONTRACT OR GRANT NUMBERS: DK20407DKNIDDK; HL52530HLNHLBI
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: DNA,-Mitochondrial; Muscle-Proteins
MEDLINE ACCESSION NUMBER: 97246182
UPDATE CODE: 199707
Record 216 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Pseudohypertension and Williams syndrome [letter].
AUTHOR(S): Bastianon-V
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Cardiol. 1996 Mar-Apr; 17(2): 132
INTERNATIONAL STANDARD SERIAL NUMBER: 0172-0643
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Blood-Pressure-Determination-methods; Blood-Pressure-Monitoring,-Ambulatory; Child,-Preschool; Heart-Defects,-Congenital-diagnosis; Hypertension-diagnosis; Hypertension-physiopathology; Williams-Syndrome-diagnosis; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Heart-Defects,-Congenital-physiopathology; *Hypertension-etiology; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 96430377
UPDATE CODE: 199707
Record 217 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Williams syndrome]
AUTHOR(S): Momma-K
ADDRESS OF AUTHOR: Department of Pediatric, Cardiology, Tokyo Women's Medical College.
SOURCE (BIBLIOGRAPHIC CITATION): Ryoikibetsu-Shokogun-Shirizu. 1996(15): 229-31
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
MINOR MESH HEADINGS: Child-; Chromosomes,-Human,-Pair-7; Gene-Deletion; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Williams-Syndrome
CHECKTAGS: Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 97200060
UPDATE CODE: 199706
Record 218 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Similarities in genetic mental retardation and neuroteratogenic syndromes.
AUTHOR(S): Adams-J
ADDRESS OF AUTHOR: Department of Psychology, University of Massachusetts/Boston 02125, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Pharmacol-Biochem-Behav. 1996 Dec; 55(4): 683-90
INTERNATIONAL STANDARD SERIAL NUMBER: 0091-3057
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Principles and mechanisms of neurobehavioral teratogenesis are used to show commonalities between manifestations of abnormal development consequent to genetic abnormality or teratogenic exposure. A comparison and contrast of both the neuropathological and neuropsychological characteristics of children with early embryonic exposure to isotretinoin (Accutane) or with selected mental retardation syndromes is presented. Putative mechanisms of retinoid teratogenesis through the disruption of normal retinoid-triggered embryogenesis and the alteration of homeobox gene expression are discussed. Interference with homeobox gene expression as an avenue to the perturbation of early developmental processes and the production of hindbrain and craniofacial abnormalities is then proposed as a common basis for the translation and expression of several genetic mental retardation syndromes. Finally, dose-response effects and other modulators of vulnerability to abnormal development are used to provide a conceptual framework for the understanding of variability in the expression of genetically caused abnormalities.
MINOR MESH HEADINGS: Child-; Fragile-X-Syndrome-genetics; Fragile-X-Syndrome-psychology; Isotretinoin-toxicity; Pregnancy-; Williams-Syndrome-genetics; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Mental-Retardation-genetics; *Nervous-System-Diseases-chemically-induced; *Nervous-System-Diseases-congenital; *Teratogens-toxicity
CHECKTAGS: Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 0; 4759-48-2
NAME OF SUBSTANCE: Teratogens; Isotretinoin
MEDLINE ACCESSION NUMBER: 97136063
UPDATE CODE: 199706
Record 219 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Human genetics: dissecting Williams syndrome.
AUTHOR(S): Monaco-AP
ADDRESS OF AUTHOR: Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Curr-Biol. 1996 Nov 1; 6(11): 1396-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0960-9822
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Molecular analysis of a small hemizygous deletion in a patient with partial Williams syndrome suggests that loss of the LIM-Kinase1 gene may be responsible for the impaired visuospatial constructive cognition characteristic of the syndrome.
MINOR MESH HEADINGS: Elastin-genetics; Genetics,-Medical
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Protein-Kinases-genetics; *Williams-Syndrome-genetics; *Zinc-Fingers
CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.1.-; EC 2.7.1.37; 9007-58-3
NAME OF SUBSTANCE: LIM-kinase; Protein-Kinases; Elastin
MEDLINE ACCESSION NUMBER: 97147803
UPDATE CODE: 199706
Record 220 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Reduced stereoacuity in Williams syndrome.
AUTHOR(S): Sadler-LS; Olitsky-SE; Reynolds-JD
ADDRESS OF AUTHOR: Department of Pediatrics, State University of New York at Buffalo, Children's Hospital, NY 14222, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1996 Dec 18; 66(3): 287-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Strabismus is a frequently recognized manifestation of Williams syndrome [Greenberg and Lewis, 1988: Ophthalmology 95:1608-1612; Kapp et al., 1995: Am J Ophthalmol 119:355-360]. We recently evaluated the ophthalmologic function of 12 patients with Williams syndrome (WS), with an emphasis on binocularity. Four of 12 patients (33%) had measurable strabismus. Of the 8 remaining patients, examination of binocular function was possible in 6, all of whom demonstrated reduced stereoacuity. We speculate that subnormal binocular vision and the poor visuospatial performance observed in patients with WS may be related to abnormal brain morphogenesis in the region of the occipitoparietal cortex.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Esotropia-physiopathology; Infant-; Vision,-Binocular
MAJOR MeSH HEADINGS: *Vision-Disorders-physiopathology; *Visual-Acuity; *Williams-Syndrome-physiopathology
CHECKTAGS: Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97138463
UPDATE CODE: 199705
Record 221 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
AUTHOR(S): Joyce-CA; Zorich-B; Pike-SJ; Barber-JC; Dennis-NR
ADDRESS OF AUTHOR: Genetics Laboratory, Salisbury District Hospital, UK.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1996 Dec; 33(12): 986-92
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Fluorescence in situ hybridisation (FISH) and conventional chromosome analysis were performed on a series of 52 patients with classical Williams-Beuren syndrome (WBS), suspected WBS, or supravalvular aortic stenosis (SVAS). In the classical WBS group, 22/23 (96%) had a submicroscopic deletion of the elastin locus on chromosome 7, but the remaining patient had a unique interstitial deletion of chromosome 11 (del(11)(q13.5q14.2)). In the suspected WBS group 2/22 (9%) patients had elastin deletions but a third patient had a complex karyotype including a ring chromosome 22 with a deletion of the long arm (r(22)(p11-->q13)). In the SVAS group, 1/7 (14%) had an elastin gene deletion, despite having normal development and minimal signs of WBS. Overall, some patients with submicroscopic elastin deletions have fewer features of Williams-Beuren syndrome than those with other cytogenetic abnormalities. These results, therefore, emphasise the importance of a combined conventional and molecular cytogenetic approach to diagnosis and suggest that the degree to which submicroscopic deletions of chromosome 7 extend beyond the elastin locus may explain some of the phenotypic variability found in Williams-Beuren syndrome.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Chromosomes,-Human,-Pair-11-genetics; Chromosomes,-Human,-Pair-22-genetics; Chromosomes,-Human,-Pair-7-genetics; Elastin-genetics; Gene-Deletion; Genotype-; In-Situ-Hybridization,-Fluorescence; Infant-; Phenotype-; Pulmonary-Valve-Stenosis; Ring-Chromosomes; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Variation-Genetics; *Williams-Syndrome-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: 97157849
UPDATE CODE: 199705
Record 222 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Linguistic abilities in Italian children with Williams syndrome.
AUTHOR(S): Volterra-V; Capirci-O; Pezzini-G; Sabbadini-L; Vicari-S
ADDRESS OF AUTHOR: Institute of Psychology, C.N.R., Department of Neuropsychology of Language and Deafness, Rome. volterra@kant.innkeant.rm.cur.it
SOURCE (BIBLIOGRAPHIC CITATION): Cortex. 1996 Dec; 32(4): 663-77
INTERNATIONAL STANDARD SERIAL NUMBER: 0010-9452
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: Recent studies on subjects with Williams syndrome (WS) have revealed a particular facility for language, rarely observed in other mental retarded populations, inspiring much belief in the independence of language from cognition. Lexical and morphosyntactic abilities of 17 Italian WS individuals, between 4.10 and 15.3 years of age, were evaluated both in comprehension and production and compared with those of normally developing Italian children. WS subjects look similar to normal controls in lexical comprehension, but they appear to perform more poorly in grammatical comprehension. Furthermore they look deviant from normals in some morphosyntactic aspects of their production. They perform better than normal controls only with respect to phonological fluency, when semantic aspects are not involved. Our data show very little evidence for a dissociation between language and cognition.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Italy-; Psychiatric-Status-Rating-Scales; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Linguistics-; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97112565
UPDATE CODE: 199705
Record 223 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.
AUTHOR(S): Dutly-F; Schinzel-A
ADDRESS OF AUTHOR: Institut fur Medizinische Genetik, Universitat Zurich, Switzerland.
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 1996 Dec; 5(12): 1893-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams-Beuren syndrome (WBS) is generally the consequence of an interstitial microdeletion at 7q11.23, which includes the elastin gene, thus causing hemizygosity at the elastin gene locus. The origin of the deletion has been reported by many authors to be maternal in approximately 60% and paternal in 40% of cases. Segregation analysis of grandparental markers flanking the microdeletion region in WBS patients and their parents indicated that in the majority of cases a recombination between grandmaternal and grandpaternal chromosomes 7 at the site of the deletion had occurred during meiosis in the parent from whom the deleted chromosome stemmed. Thus, the majority of deletions were considered a consequence of unequal crossing-over between homologous chromosomes 7 (interchromosomal rearrangement) while in the remaining cases an intrachromosomal recombination (between the chromatids of one chromosome 7) may have occurred. These results suggest that the majority of interstitial deletions of the elastin gene region occur during meiosis, due to unbalanced recombination while a minority could occur before or during meiosis probably due to intrachromosomal rearrangements. The recurrence risk of the interchromosomal rearrangements for sibs of a proband with non-affected parents must be negligible, which fits well with the observation of sporadic occurrence of almost all cases of WBS.
MINOR MESH HEADINGS: Gene-Rearrangement; Genotype-
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Elastin-genetics; *Gene-Deletion; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 97123493
UPDATE CODE: 199705
Record 224 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: The Williams syndrome: an Italian collaborative study.
AUTHOR(S): Franceschini-P; Guala-A; Vardeu-MP; Signorile-F; Franceschini-D; Mastroiacovo-P; Gianotti-A; Livini-E; Lalatta-F; Selicorni-A; Andria-G; Scarano-G; Della-Monica-M; Rizzo-R; Zelante-L; Stabile-M; Gabrielli-O; Neri-G
ADDRESS OF AUTHOR: Istituto di Discipline Pediatriche, Universita degli Studi, Torino.
SOURCE (BIBLIOGRAPHIC CITATION): Minerva-Pediatr. 1996 Oct; 48(10): 421-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0026-4946
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.
MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Adult-; Child-; Child,-Preschool; Facies-; Growth-Disorders-genetics; Italy-epidemiology; Maternal-Age; Mental-Retardation-genetics; Parents-; Paternal-Age; Williams-Syndrome-diagnosis; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Williams-Syndrome-epidemiology
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97170527
UPDATE CODE: 199705
Record 225 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Pancreatic adenocarcinoma: epidemiology and genetics.
AUTHOR(S): Flanders-TY; Foulkes-WD
ADDRESS OF AUTHOR: Department of Medicine, McGill University, Montreal General Hospital, Quebec, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1996 Nov; 33(11): 889-98
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Pancreatic adenocarcinoma is an important cause of death from cancer throughout the developed world. There are few established environmental risk factors, but a previous history of pancreatitis and exposure to tobacco and salted food appear to be the most important. A family history of pancreatic adenocarcinoma is not common in patients with this disease, but recent research has shown that pancreatic adenocarcinoma can be a feature of cancer susceptibility syndromes associated with germline mutations in p16, BRCA1, BRCA2, and APC. This highlights the need for a full family history in apparently sporadic cases. Somatic mutations in p16, BRCA2, and APC have also been reported in pancreatic cancer; however, K-RAS mutations appear to be the commonest oncogenic alteration. Recent advances in our understanding of the basis of hereditary cancer syndromes may be applicable to the diagnosis, treatment, and possibly prevention of pancreatic adenocarcinoma in the future.
MINOR MESH HEADINGS: Adenocarcinoma-therapy; Adenomatous-Polyposis-Coli-genetics; Ataxia-Telangiectasia-genetics; Breast-Neoplasms-epidemiology; Breast-Neoplasms-genetics; Cell-Adhesion-Molecules-genetics; Colorectal-Neoplasms,-Hereditary-Nonpolyposis-epidemiology; Colorectal-Neoplasms,-Hereditary-Nonpolyposis-genetics; Gene-Deletion; Genes,-Suppressor,-Tumor; Homozygote-; Incidence-; Li-Fraumeni-Syndrome-genetics; Mass-Screening; Melanoma-complications; Melanoma-epidemiology; Melanoma-genetics; Oncogenes-; Ovarian-Neoplasms-epidemiology; Ovarian-Neoplasms-genetics; Pancreatic-Neoplasms-therapy; Pancreatitis-genetics; Pedigree-; Prevalence-; Prognosis-; Risk-Factors; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Adenocarcinoma-epidemiology; *Adenocarcinoma-genetics; *Pancreatic-Neoplasms-epidemiology; *Pancreatic-Neoplasms-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-MULTICASE; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Cell-Adhesion-Molecules
MEDLINE ACCESSION NUMBER: 97107967
UPDATE CODE: 199705
Record 226 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Modularity of language reconsidered.
AUTHOR(S): Levy-Y
ADDRESS OF AUTHOR: Psychology Department, Hebrew University, Jerusalem, Israel. msyonata@pluto.mscc.huji.ac.il
SOURCE (BIBLIOGRAPHIC CITATION): Brain-Lang. 1996 Nov; 55(2): 240-63
INTERNATIONAL STANDARD SERIAL NUMBER: 0093-934X
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: This paper focuses on claims for the modularity of language that have been voiced within the field of cognitive developmental disorders. It will be argued that, whereas there is sound empirical support for "little" modularity, i.e., the internal modularity of the grammar, the cases that have been brought up in the literature do not, in fact, provide support for "Big" Modularity, i.e., the Modularity of the language faculty. The cases discussed are children with William's Syndrome and the retarded individuals studied by Cromer (1993), Curtiss (1979, 1988), Rondal (1993), Smith and Tsimpli (1995), and Yamada (1990). Rather then making the case for Modularity. it is suggested that these individuals' linguistic performance can best be described in terms of uniquely preserved accessing privileges for language which enable them to reach levels of performance that they cannot reach through other modalities.
MINOR MESH HEADINGS: Environment-; Language-Development; Language-Disorders; Semantics-; Social-Isolation
MAJOR MeSH HEADINGS: *Brain-anatomy-and-histology; *Brain-physiology; *Cognition-physiology; *Language-
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 97093838
UPDATE CODE: 199705
Record 227 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Williams syndrome in Slovakia [letter]
AUTHOR(S): Bzduch-V
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1996 Nov 11; 65(4): 366
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Slovakia-
MAJOR MeSH HEADINGS: *Williams-Syndrome
CHECKTAGS: Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 97082718
UPDATE CODE: 199705
Record 228 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Supravalvar and valvar aortic stenosis associated with valvar and subvalvar pulmonary stenosis. Coexistence of two clinical syndromes]
ORIGINAL TITLE: Estenose supravalvar e valvar aortica associada a estenose infundibulo valvar pulmonar. Coexistencia de duas sindromes clinicas.
AUTHOR(S): Atik-FA; Souto-FA; Furlanetto-BH; Furlanetto-G; Soraggi-AM; da-Costa-AJ
ADDRESS OF AUTHOR: Hospital Geral de Sao Paulo, Ministerio do Exercito, SP.
SOURCE (BIBLIOGRAPHIC CITATION): Arq-Bras-Cardiol. 1996 May; 66(5): 281-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0066-782X
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: PORTUGUESE; NON-ENGLISH
COUNTRY OF PUBLICATION: BRAZIL
ABSTRACT: A 4 year old patient with congenital rubella syndrome, confirmed serologically, presents with neurosensorial deafness and a rare association of cardiac anomalies: supravalvar and valvar aortic stenosis and subvalvar pulmonary stenosis. Bidimensional echocardiography and angiography confirmed the diagnosis and the surgical treatment was successful. Due to the presence of somatic characteristics of Williams's syndrome, mental retardation and supraortic stenosis, the authors postulate that there is a coexistence of clinical syndromes responsible for the malformations of this case. This fact is rare on clinical settings, requiring accurate diagnosis and treatment.
MINOR MESH HEADINGS: Angiocardiography-; Child,-Preschool; Echocardiography,-Doppler; English-Abstract; Rubella-Syndrome,-Congenital-complications; Rubella-Syndrome,-Congenital-surgery; Williams-Syndrome-complications; Williams-Syndrome-surgery
MAJOR MeSH HEADINGS: *Rubella-Syndrome,-Congenital-diagnosis; *Williams-Syndrome-diagnosis
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97161808
UPDATE CODE: 199704
Record 229 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Memory abilities in children with Williams syndrome.
AUTHOR(S): Vicari-S; Brizzolara-D; Carlesimo-GA; Pezzini-G; Volterra-V
ADDRESS OF AUTHOR: IRCCS Ospedale Pediatrico Bambino Gesu, Santa Marinella, Roma.
SOURCE (BIBLIOGRAPHIC CITATION): Cortex. 1996 Sep; 32(3): 503-14
INTERNATIONAL STANDARD SERIAL NUMBER: 0010-9452
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: Williams syndrome (WS) is a rare genetic condition characterised by intellectual disability, typical facial dysmorphology and several medical anomalies. A specific neuropsychological profile with a dissociation between language (relatively preserved) and visuo-spatial abilities (more seriously impaired) has been hypothesised in these children. Memory abilities of these patients have not been adequately investigated, although they may substantially contribute to better understanding their neuropsychological profile. The present study aimed at investigating verbal and spatial memory in patients with WS (N = 16). Their performance was compared with that of normally developing children on tasks of verbal and spatial span and immediate and delayed recall of verbal and visuo-perceptual materials. Memory abilities of WS children appear to be characterised by defective visuo-spatial memory, both in the short-term and long-term domain, and a dissociation between normal short- but deficient long-term verbal learning. Results are interpreted by supporting the thesis that intellectual disability reflects the defective functioning of a complex system in which some cognitive competencies may be disrupted more than others (Detterman, 1987; Vicari, Albertini and Caltagirone, 1992).
MINOR MESH HEADINGS: Child-; Memory-Disorders-psychology; Memory,-Short-Term; Mental-Retardation-psychology; Orientation-; Pattern-Recognition,-Visual; Psychomotor-Performance; Retention-Psychology; Serial-Learning; Verbal-Learning; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Memory-Disorders-diagnosis; *Mental-Retardation-diagnosis; *Williams-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97041254
UPDATE CODE: 199704
Record 230 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Late death from aneurysm rupture following balloon angioplasty for branch pulmonary artery stenosis.
AUTHOR(S): Zeevi-B; Berant-M; Blieden-LC
ADDRESS OF AUTHOR: Cardiology Institute, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.
SOURCE (BIBLIOGRAPHIC CITATION): Cathet-Cardiovasc-Diagn. 1996 Nov; 39(3): 284-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0098-6569
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report on a child with Williams syndrome who died from aneurysm rupture 2 weeks following balloon angioplasty for branch pulmonary artery stenosis.
MINOR MESH HEADINGS: Aneurysm,-Ruptured-complications; Child,-Preschool; Constriction,-Pathologic; Fatal-Outcome; Time-Factors
MAJOR MeSH HEADINGS: *Aneurysm,-Ruptured-etiology; *Angioplasty,-Balloon; *Pulmonary-Artery-pathology; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97088036
UPDATE CODE: 199704
Record 231 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Williams syndrome associated with chronic renal failure and various endocrinological abnormalities.
AUTHOR(S): Ichinose-M; Tojo-K; Nakamura-K; Matsuda-H; Tokudome-G; Ohta-M; Sakai-S; Sakai-O
ADDRESS OF AUTHOR: Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo.
SOURCE (BIBLIOGRAPHIC CITATION): Intern-Med. 1996 Jun; 35(6): 482-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0918-2918
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: A 31-year-old man who had been under regular hemodialysis for 6 months was diagnosed as Williams syndrome (WS) by fluorescence in situ hybridization (FISH) chromosomal analysis. The association of WS and chronic renal failure (CRF) is only rarely encountered. Endocrinological examinations revealed hypergonadotropic hypogonadism. Prolonged and exaggerated responses of adrenocorticotropin (ACTH) to insulin-induced hypoglycemia and corticotropin releasing hormone (CRH) were also noted. While most of the endocrinological abnormalities observed in this patient could be attributed to altered endocrine circumstances in CRF, some findings stand in contrast. Furthermore, the testicular biopsy specimen showed severe hypospermatogenesis. Endocrine disorders observed in this patient may be at least in part, responsible for various clinical features underlying WS.
MINOR MESH HEADINGS: Adult-; Elastin-genetics; Hemodialysis-; Hormones-blood; Hypothalamo-Hypophyseal-System-physiopathology; In-Situ-Hybridization,-Fluorescence; Insulin-diagnostic-use; Pituitary-Hormones,-Anterior-diagnostic-use; Pituitary-Hormones,-Anterior-secretion; Pituitary-Adrenal-System-physiopathology; Testis-pathology; Uremia-complications; Uremia-pathology; Williams-Syndrome-genetics; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7-genetics; *Hypogonadism-etiology; *Kidney-Failure,-Chronic-etiology; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 11061-68-0; 9007-58-3
NAME OF SUBSTANCE: Hormones; Pituitary-Hormones,-Anterior; Insulin; Elastin
MEDLINE ACCESSION NUMBER: 96432549
UPDATE CODE: 199704
Record 232 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Supravalvular aortic stenosis without Williams syndrome.
AUTHOR(S): Ozergin-U; Sunam-GS; Yeniterzi-M; Yuksek-T; Solak-T; Solak-H
ADDRESS OF AUTHOR: Department of Thoracic and Cardiovascular Surgery, Faculty of Medicine, University of Selcuk, Konya, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Thorac-Cardiovasc-Surg. 1996 Aug; 44(4): 219-21
INTERNATIONAL STANDARD SERIAL NUMBER: 0171-6425
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: In this article, the case of a 30-years-old female patient with supravalvular aortic stenosis is reported. Her clinical picture was otherwise completely different from Williams syndrome. Since supravalvular aortic stenosis is rarely seen, its forms are discussed and it is concluded that supravalvular aortic stenosis can be present without Williams syndrome.
MINOR MESH HEADINGS: Adult-; Aortic-Valve-Stenosis-diagnosis; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-congenital
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97051443
UPDATE CODE: 199704
Record 233 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Williams-Beuren syndrome and celiac disease [letter]
AUTHOR(S): Santer-R; Pankau-R; Schaub-J; Burgin-Wolff-A
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Gastroenterol-Nutr. 1996 Oct; 23(3): 339-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0277-2116
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Child-; Child,-Preschool; Infant-
MAJOR MeSH HEADINGS: *Celiac-Disease-complications; *Williams-Syndrome-complications
CHECKTAGS: Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 97045024
UPDATE CODE: 199703
Record 234 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
AUTHOR(S): Osborne-LR; Martindale-D; Scherer-SW; Shi-XM; Huizenga-J; Heng-HHQ; Costa-T; Pober-B; Lew-L; Brinkman-J; Rommens-J; Koop-B; Tsui-LC
ADDRESS OF AUTHOR: Department of Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1996 Sep 1; 36(2): 328-36
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemia, dysmorphic facies, and mental retardation remain to be identified. In addition, the size of the genomic interval commonly deleted in WS patients has not been established. In this study we report the characterization of a 500-kb region that was determined to be deleted in our collection of WS patients. A detailed physical map consisting of cosmid, P1 artificial chromosomes, and yeast artificial chromosomes was constructed and used for gene isolation experiments. Using the techniques of direct cDNA selection and genomic DNA sequencing, three known genes (ELN, LIMK1, and RFC2), a novel gene (WSCR1) with homology to RNA-binding proteins, a gene with homology to restin, and four other putative transcription units were identified. LIMK1 is a protein kinase with two repeats of the LIM/double zinc finger motif, and it is highly expressed in brain. RFC2 is the 40-kDa ATP-binding subunit of replication factor C, which is known to play a role in the elongation of DNA catalyzed by DNA polymerase delta and epsilon. LIMK1 and WSCR1 may be particularly relevant when explaining cognitive defects observed in WS patients.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Cells,-Cultured; Chromosome-Mapping; In-Situ-Hybridization,-Fluorescence; Lymphocytes-cytology; Molecular-Sequence-Data; Sequence-Homology,-Amino-Acid
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96411691
UPDATE CODE: 199703
SECONDARY SOURCE IDENTIFIER: GENBANK/AF041055; GENBANK/AF041056; GENBANK/AF041057; GENBANK/AF041058; GENBANK/AF041059; GENBANK/AF045555; GENBANK/U63721
Record 235 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Sudden death in Williams syndrome: report of ten cases.
AUTHOR(S): Bird-LM; Billman-GF; Lacro-RV; Spicer-RL; Jariwala-LK; Hoyme-HE; Zamora-Salinas-R; Morris-C; Viskochil-D; Frikke-MJ; Jones-MC
ADDRESS OF AUTHOR: Division of Dysmorphology, Children's Hospital, San Diego, California 92123, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1996 Dec; 129(6): 926-31
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament, and cardiovascular disease. Sudden death is a recognized complication of WS; however, it is thought to be rare. The clinical features of 10 children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the literature. We suggest that sudden death is a more common complication than has been assumed previously. Pathologic findings on the seven autopsy cases implicate two anatomic abnormalities that predispose individuals with WS to sudden death: coronary artery stenosis and severe biventricular outflow tract obstruction. The mechanisms for sudden death for both anatomic subgroups include myocardial ischemia, decreased cardiac output, and arrhythmia. We believe these observations warrant the development of strategies for monitoring patients with WS in an attempt to identify those at increased risk of sudden death.
MINOR MESH HEADINGS: Aortic-Valve-pathology; Child-; Child,-Preschool; Coronary-Disease-pathology; Death,-Sudden-etiology; Fatal-Outcome; Infant-; Infant,-Newborn; Ventricular-Outflow-Obstruction-pathology
MAJOR MeSH HEADINGS: *Death,-Sudden-pathology; *Williams-Syndrome-pathology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 97124570
UPDATE CODE: 199703
SUBSET: AIM
Record 236 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Molecular cytogenetic diagnosis of Williams syndrome.
AUTHOR(S): Hirota-H; Matsuoka-R; Kimura-M; Imamura-S; Joh-o-K; Ando-M; Takao-A; Momma-K
ADDRESS OF AUTHOR: Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical College, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1996 Aug 23; 64(3): 473-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, mental retardation, and congenital heart defect (particularly supravalvular aortic stenosis), associated at times with infantile hypercalcemia. Molecular genetic studies have indicated that hemizygosity at the elastin locus (7q11.23) causes WS. The purpose of this study was to confirm that this regional deletion, involving the elastin locus, is the cause of WS in Japan, and to clarify the correlation between the phenotype and the elastin locus. Thirty-two patients with WS and thirty of their relatives were examined by fluorescent in situ hybridization (FISH), using the WS chromosome region (WSCR) probe. All patients had cardiovascular disease (100%), 30 had typical WS facial changes (94%), 31 had mental retardation or developmental delay (97%), 16 were small-for-date at birth (50%), 14 had short stature (44%), and 13 had dental anomalies (41%). No relatives showed any manifestation of WS. Hemizygosity for a region of 7q11.23, involving the elastin locus, was found in all WS patients, but was not found in the 30 relatives.
MINOR MESH HEADINGS: Adolescence-; Adult-; Angiocardiography-; Child-; Child,-Preschool; DNA-Probes; Elastin-genetics; Infant-; Williams-Syndrome-radiography
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-7-genetics; *In-Situ-Hybridization-methods; *Williams-Syndrome-diagnosis; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: DNA-Probes; Elastin
MEDLINE ACCESSION NUMBER: 97015987
UPDATE CODE: 199703
Record 237 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Short-term memory in children with Williams syndrome: a reduced contribution of lexical--semantic knowledge to word span.
AUTHOR(S): Vicari-S; Carlesimo-G; Brizzolara-D; Pezzini-G
ADDRESS OF AUTHOR: I.R.C.C.S. Ospedale Pediatrico Bambino Gesu, Santa Marinella, Rome, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Neuropsychologia. 1996 Sep; 34(9): 919-25
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3932
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams syndrome (WS) is a genetic syndrome of abnormal neurodevelopment, characterised by a specific linguistic pattern. Comparing performances of WS subjects with those of normal children in a word span task, we found that WS subjects revealed normal phonological similarity and length effects but a reduced frequency effect. Our results suggest comparable phonological encoding mechanisms in WS and normal controls and, at the same time, it provides evidence for an impaired access to lexical-semantic knowledge in WS subjects. This dissociation fits well with the particular pattern of linguistic abilities of these subjects.
MINOR MESH HEADINGS: Child-; Language-Disorders-diagnosis; Language-Tests; Memory-Disorders-diagnosis
MAJOR MeSH HEADINGS: *Language-Disorders-complications; *Memory-Disorders-complications; *Semantics-; *Vocabulary-; *Williams-Syndrome-complications
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96420039
UPDATE CODE: 199702
Record 238 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Spontaneous regression of peripheral pulmonary artery stenosis in Williams syndrome.
AUTHOR(S): Miyamura-H; Watanabe-H; Tatebe-S; Eguchi-S
ADDRESS OF AUTHOR: Department of Thoracic and Cardiovascular Surgery, Niigata University School of Medicine, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Jpn-Circ-J. 1996 May; 60(5): 311-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0047-1828
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: An infant girl diagnosed with multiple peripheral pulmonary artery stenosis and Williams syndrome was followed-up for 17 years. Three cardiac catheterizations performed over the follow-up period showed that spontaneous gradual regression of the stenosis occurred with time. The initial systolic pressure gradient of 77-79 mmHg at the stenoses had decreased to 23-29 mmHg when measured at 17 years of age. Contrary to the progressive nature of systemic artery stenosis in Williams syndrome, peripheral pulmonary artery stenosis appears to have the capacity for spontaneous improvement. Careful consideration is required to determine the indications for interventional catheterization for the dilation of peripheral pulmonary artery stenosis in cases of Williams syndrome.
MINOR MESH HEADINGS: Constriction,-Pathologic; Follow-Up-Studies; Infant-; Pulmonary-Artery-physiopathology; Pulmonary-Artery-radiography
MAJOR MeSH HEADINGS: *Pulmonary-Artery-pathology; *Williams-Syndrome-physiopathology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96396605
UPDATE CODE: 199702
Record 239 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.
AUTHOR(S): Robinson-WP; Waslynka-J; Bernasconi-F; Wang-M; Clark-S; Kotzot-D; Schinzel-A
ADDRESS OF AUTHOR: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1996 May 15; 34(1): 17-23
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding ELN to define the extent of deletions associated with WBS. With only one exception, ELN, D7S1870, and one copy of the D7S489 locus (D7S489U) were always included in the deletions. One patient showed lack of maternal inheritance at D7S1870 and not at ELN or D7S489U. A product corresponding to D7S489U was amplified from YAC 743G6 and from the P1 clone RMC07P008, thereby localizing both to within the common deletion. The boundary of the deleted region on the proximal (centromeric) side is D7S653 and on the distal side is D7S675, neither of which were ever included in the deletion. One locus, D7S489L, was variably deleted in patients, indicating a minimum of two common breakpoints on the proximal side. At least one additional repeat amplified by D7S489 (D7S489M) was localized to a YAC contig mapping distal to the common deletion. The D7S489 sequence is highly homologous to several cDNA clones in the GenBank database and contains an Alu sequence. It is possible that this andsolidusor other repetitive sequences in this region could play a role in the mechanism of deletion.
MINOR MESH HEADINGS: Base-Sequence; Chromosome-Mapping; Databases,-Factual; Elastin-genetics; Genetic-Markers; Heterozygote-; Molecular-Sequence-Data; Polymerase-Chain-Reaction; Polymorphism-Genetics; Sequence-Homology,-Nucleic-Acid
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Repetitive-Sequences,-Nucleic-Acid; *Sequence-Deletion; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: Genetic-Markers; Elastin
MEDLINE ACCESSION NUMBER: 96299656
UPDATE CODE: 199702
Record 240 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: A longitudinal study of cognitive abilities and educational attainment in Williams syndrome.
AUTHOR(S): Udwin-O; Davies-M; Howlin-P
ADDRESS OF AUTHOR: Mary Sheridan Centre for Child Health, Lambeth Healthcare (NHS) Trust, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Dev-Med-Child-Neurol. 1996 Nov; 38(11): 1020-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0012-1622
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The paper reports on changes in IQ scores and in reading, spelling and arithmetic skills over time in 23 young adults with Williams syndrome. They were first assessed in their early to mid-teens and followed up 8 to 9 years later, at an average age of 21 years 9 months. Cognitive assessments indicated increases in Full Scale, Verbal and Performance IQ scores. These increases allow us to conclude that in the case of Williams syndrome (unlike some other conditions) there does not appear to be a decline in the rate of cognitive development over time. Comparisons of Reading, Spelling and Arithmetic scores attained at first and second testing periods revealed only modest increases in reading accuracy and spelling scores, a slight decline in reading comprehension scores, and little change in arithmetic test scores. Differences in the tests used at the two assessment periods do not allow for definitive conclusions to be drawn, but the findings suggest that individuals with Williams syndrome make little progress in their educational skills beyond their early teenage years.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Language-; Longitudinal-Studies
MAJOR MeSH HEADINGS: *Cognition-; *Educational-Status; *Intelligence-; *Williams-Syndrome-psychology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97070257
UPDATE CODE: 199702
Record 241 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover [letter]
AUTHOR(S): Urban-Z; Helms-C; Fekete-G; Csiszar-K; Bonnet-D; Munnich-A; Donis-Keller-H; Boyd-CD
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1996 Oct; 59(4): 958-62
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Chromosome-Mapping; Genotype-; Haploidy-; Microsatellite-Repeats; Polymerase-Chain-Reaction
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Crossing-Over-Genetics; *Gene-Deletion; *Meiosis-; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: LETTER
CONTRACT OR GRANT NUMBERS: HL37438HLNHLBI; HG00469HGNHGRI
MEDLINE ACCESSION NUMBER: 96404432
UPDATE CODE: 199701
Record 242 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
AUTHOR(S): Perez-Jurado-LA; Peoples-R; Kaplan-P; Hamel-BC; Francke-U
ADDRESS OF AUTHOR: Department of Genetics, Stanford University School of Medicine, CA, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1996 Oct; 59(4): 781-92
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is a developmental disorder with variable phenotypic expression associated, in most cases, with a hemizygous deletion of part of chromosomal band 7q11.23 that includes the elastin gene (ELN). We have investigated the frequency and size of the deletions, determined the parental origin, and correlated the molecular results with the clinical findings in 65 WS patients. Hemizygosity at the ELN locus was established by typing of two intragenic polymorphisms, quantitative Southern analysis, and/or FISH. Polymorphic markers covering the deletion and flanking regions were ordered by a combination of genetic and physical mapping. Genotyping of WS patients and available parents for 13 polymorphisms revealed that of 65 clinically defined WS patients, 61 (94%) had a deletion of the ELN locus and were also hemizygous (or noninformative) at loci D7S489B, D7S2476, D7S613, D7S2472, and D7S1870. None of the four patients without ELN deletion was hemizygous at any of the polymorphic loci studied. All patients were heterozygous (or noninformative) for centromeric (D7S1816, D7S1483, and D7S653) and telomeric (D7S489A, D7S675, and D7S669) flanking loci. The genetic distance between the most-centromeric deleted locus, D7S489B, and the most-telomeric one, D7S1870, is 2 cM. The breakpoints cluster at approximately 1 cM to either side of ELN. In 39 families informative for parental origin, all deletions were de novo, and 18 were paternally and 21 maternally derived. Comparison of clinical data, collected in a standardized quantifiable format, revealed significantly more severe growth retardation and microcephaly in the maternal deletion group. An imprinted locus, silent on the paternal chromosome and contributing to statural growth, may be affected by the deletion.
MINOR MESH HEADINGS: Adult-; Blotting,-Southern; Child-; Chromosome-Mapping; Elastin-genetics; Gene-Dosage; Genomic-Imprinting; Genotype-; In-Situ-Hybridization,-Fluorescence; Pedigree-; Phenotype-; Polymerase-Chain-Reaction; Polymorphism,-Restriction-Fragment-Length
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Gene-Deletion; *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: R01HG00298HGNHGRI; T32GM08404GMNIGMS
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 96404410
UPDATE CODE: 199701
Record 243 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Williams syndrome starts making sense [editorial]
AUTHOR(S): Ashkenas-J
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1996 Oct; 59(4): 756-61
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Chromosomes,-Human,-Pair-7; Cognition-; DNA-Binding-Protein,-Cyclic-AMP-Responsive-genetics; Elastin-genetics; Gene-Deletion; Genomic-Imprinting; Proteins-genetics; Translocation-Genetics; Zinc-Fingers
MAJOR MeSH HEADINGS: *Williams-Syndrome-genetics
CHECKTAGS: Animal; Female; Human; Male
PUBLICATION TYPE: EDITORIAL; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 9007-58-3
NAME OF SUBSTANCE: link-protein; DNA-Binding-Protein,-Cyclic-AMP-Responsive; Proteins; Elastin
MEDLINE ACCESSION NUMBER: 96404406
UPDATE CODE: 199701
Record 244 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Bilateral vocal cord paralysis in children]
AUTHOR(S): Takamatsu-I
ADDRESS OF AUTHOR: Department of Otorhinolaryngology, Yokohama City University.
SOURCE (BIBLIOGRAPHIC CITATION): Nippon-Jibiinkoka-Gakkai-Kaiho. 1996 Jan; 99(1): 91-102
INTERNATIONAL STANDARD SERIAL NUMBER: 0030-6622
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: Eighteen infantile cases with bilateral vocal cord paralysis were treated at our hospital from 1970 to 1993. All cases were diagnosed using a flexible fiberscope to examine the larynx. Direct laryngoscopy was performed under general anesthesia for the definite diagnosis and differential diagnosis from laryngomalacia, subglottic stenosis, tracheal stenosis, or laryngeal web. Bilateral vocal cord paralysis in children is a rare disease, there have been few and reported cases. Eight cases were male and 10 cases were female. Thirteen cases were congenital, 4 cases acquired and 1 case was unknown. The characteristic symptoms of bilateral vocal cord paralysis include normal or near normal phonation with inspiratory stridor which may progress to complete respiratory obstruction. Associated anomalies and diseases included 3 cases of immature infant, 2 of myelomeningocele, and single cases of Arnold-Chiari malformation, cerebral palsy, hydrocephalus, laryngomalacia, William's syndrome, Wiedemann-Beckwith syndrome, hypoxia, esophageal hiatus hernia, gastroesophageal reflex, spina bifida, COFS syndrome, and cerebral atrophy. Laryngeal function was completely recovered in seven cases following growth of the children incompletely recovered in five cases, and 2 cases retained right vocal cord paralysis. Tracheostomy was performed in 2 cases. One case died from the original disease, and the other one case was unknown. Swallowing function, phonation and development were good. Our experience suggests that the airway with bilateral vocal cord paralysis in children can be managed well without the need for tracheostomy.
MINOR MESH HEADINGS: English-Abstract; Infant-; Infant,-Newborn; Laryngoscopy-; Tracheostomy-; Vocal-Cord-Paralysis-surgery
MAJOR MeSH HEADINGS: *Vocal-Cord-Paralysis-diagnosis
CHECKTAGS: English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96419500
UPDATE CODE: 199701
Record 245 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Specific eating and sleeping problems in Prader-Willi and Williams-Beuren syndrome.
AUTHOR(S): Sarimski-K
ADDRESS OF AUTHOR: Kinderzentrum Munchen, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Child-Care-Health-Dev. 1996 May; 22(3): 143-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0305-1862
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Eating and sleeping problems have a high prevalence in mental retardation in general, but are also discussed as characteristic in some genetically determined disorders. A comparative analysis of eating and sleeping behaviours in 28 Prader-Willi- and 32 Williams-Beuren syndrome children by psychometric instruments confirms excessive food-seeking behaviours in PWS and selective food refusal in WBS as specific problems. In both syndromes, however, there is considerable individual variability in these symptoms.
MINOR MESH HEADINGS: Behavior-Therapy; Child,-Preschool; Eating-Disorders-genetics; Eating-Disorders-psychology; Prader-Willi-Syndrome-genetics; Prader-Willi-Syndrome-psychology; Sleep-Disorders-genetics; Sleep-Disorders-psychology; Williams-Syndrome-genetics; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Eating-Disorders-diagnosis; *Prader-Willi-Syndrome-diagnosis; *Sleep-Disorders-diagnosis; *Williams-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96330639
UPDATE CODE: 199701
Record 246 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: A new clinical sign in Williams syndrome [letter]
AUTHOR(S): Withers-S
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Dis-Child. 1996 Jul; 75(1): 89
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9888
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Child-; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Perceptual-Disorders-etiology; *Williams-Syndrome-diagnosis
CHECKTAGS: Human
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 96408898
UPDATE CODE: 199612
SUBSET: AIM
Record 247 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Increased prevalence of urinary symptoms and voiding dysfunction in Williams syndrome.
AUTHOR(S): Schulman-SL; Zderic-S; Kaplan-P
ADDRESS OF AUTHOR: Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1996 Sep; 129(3): 466-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Thirteen of 41 patients (32%) with Williams syndrome in a multidisciplinary clinic were noted to have genitourinary symptoms. The predominant features were increased urinary frequency and daytime wetting. Four patients had bladder diverticula and uninhibited detrusor contractions as demonstrated on urodynamic studies. We speculate that there may be an association between increased detrusor pressure, an abnormal bladder matrix, and the presence of diverticula. Early detection of urinary dysfunction through clinical symptoms and appropriate urodynamic studies, with institution of bladder training and anticholinergic medication can improve the patients' voiding patterns, both medically and socially.
MINOR MESH HEADINGS: Adolescence-; Adult-; Bladder-Diseases-complications; Child-; Child,-Preschool; Diverticulum-complications; Infant-; Urinary-Incontinence-complications; Urinary-Tract-Infections-complications; Urination-Disorders-diagnosis; Urodynamics-
MAJOR MeSH HEADINGS: *Urination-Disorders-complications; *Williams-Syndrome-complications
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96397449
UPDATE CODE: 199612
SUBSET: AIM
Record 248 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: The spectrum of ocular features in the Williams-Beuren syndrome.
AUTHOR(S): Winter-M; Pankau-R; Amm-M; Gosch-A; Wessel-A
ADDRESS OF AUTHOR: Department of Ophthalmology, University of Kiel, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1996 Jan; 49(1): 28-31
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: One hundred and fifty-two patients with the Williams-Beuren syndrome were examined to assess the frequency and severity of ophthalmological features associated with the disorder. Eighty-two (54%) had strabismus, all but three, esotropia. One hundred and seventeen (77%) patients had blue irides, 10 (7%) green, and 25 (16%) brown. One hundred and twelve (74%) showed a typical so-called stellate iris pattern of the anterior stroma. Whitish anomalies were also detectable in brown irides. Two 9-year-old patients and one 46-year-old patient had initial cataract. Of all the patients with funduscopy, 22% had retinal vascular tortuosity. One patient had suspected Rieger syndrome. Two patients had ptosis, one with a Marcus-Gunn phenomenon. No ocular manifestation of hypercalcaemia was noted.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Face-abnormalities; Infant-; Middle-Age
MAJOR MeSH HEADINGS: *Eye-Abnormalities-physiopathology; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96282234
UPDATE CODE: 199612
Record 249 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: [Strabismus and Williams-Beuren syndrome. Presentation of 3 operated cases]
ORIGINAL TITLE: Strabisme et syndrome de Williams-Beuren. Presentation de trois cas operes.
AUTHOR(S): de-Ancos-E; Klainguti-G
ADDRESS OF AUTHOR: Hopital Ophtalmique Jules Gonin, Unite de Strabologie, Lausanne.
SOURCE (BIBLIOGRAPHIC CITATION): Klin-Monatsbl-Augenheilkd. 1996 May; 208(5): 340-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0023-2165
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: BACKGROUND: Williams-Beuren syndrome (WBS) is a developmental disorder of unknown etiology. The classical features include: 1) a supravalvular aortic stenosis, 2) "elfin" facies and 3) mental deficiency. Ocular findings can be irisabnormalities (stellate, pattern), tortuositas vasorum and, though not essential for diagnosis, strabismus is commonly found. Three cases of WBS with convergent squint which underwent surgical treatment are presented. Biopsy and histological studies were performed in two cases. MATERIAL AND METHODS: Strabismus onset was diagnosed before the second year of life in all three. Pre-operative esotropia (ET) was 45, 40 and 62 delta. Age at operation was respectively 52,67 and 87 months. Surgical treatment consisted in recess-resect procedures on horizontal muscles. Biopsy was performed in two cases. RESULTS: Three months after surgery, angular measurements were respectively: exotropia (XT) 6 delta, ET 2 delta, ET 10 delta. Anatomopathological findings showed normal tendon tissue. DISCUSSION: No particular motility disturbances or pattern have been found in our patients. Amount of surgery has been chosen according to routine. Amblyopia treatment could be performed as usual. Treatment in our patients with WBS has been similar to ordinary cases of strabismus. Medium-term results do not differ from other squinting patients treated with similar procedures.
MINOR MESH HEADINGS: Child-; Child,-Preschool; English-Abstract; Esotropia-surgery; Follow-Up-Studies; Postoperative-Complications-etiology; Treatment-Outcome
MAJOR MeSH HEADINGS: *Strabismus-surgery; *Williams-Syndrome-surgery
CHECKTAGS: Case-Report; English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96327025
UPDATE CODE: 199612
Record 250 of 329 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Longitudinal study of the cognitive development 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. 1996 Jan 2; 61(1): 26-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Crisco [1990: Clin Res 38:536A] reported stability of IQs in a group of 14 children with Williams-Beuren syndrome (WBS) over a 5-year period and concluded that they display a development rate similar to normal children. The aim of our study was to examine the stability of the development of nonverbal reasoning abilities over a period of 2 years using two methods. We studied 18 children with WBS (9 girls, 9 boys) with a mean age of 6.6 years (range: 4.4-10.6 yr) at year one (T1), and approximately two years later (T2) at the average age of 8.6 years (range: 5.11-12.7 yr). The Columbia Mental Maturity Scale (CMM) and the Draw A Person Test were administered. The results show that the IQs resulting from the Draw A Person Test were stable over the 2-year period (T1: mean IQ = 63.5, T2: mean IQ = 65, t = 0.63), and display a significant correlation between the two methods (r = 0.547, P = 0.01). Furthermore, the correlation between the two tests (CMM and Draw A Person Test) at the second assessment is high and significant (r = 0.56, P = 0.01). The mean IQs at T2 can be classified as mild mental retardation. A notable result is the significant decrease of the IQs according to the CMM (T1: mean IQ = 77, T2: mean IQ = 68, t = 2.69, P = 0.01). These results suggest that the developmental outcome of children with WBS varies in specific areas of cognitive function over a 2-year period.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Intelligence-; Intelligence-Tests; Learning-Disorders; Longitudinal-Studies; Mental-Retardation; Psychological-Tests; Reference-Values; Time-Factors
MAJOR MeSH HEADINGS: *Child-Development; *Cognition-; *Williams-Syndrome-psychology
CHECKTAGS: Comparative-Study; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96341981
UPDATE CODE: 199612