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A literature search at Indiana University, Bloomington, IndianaRecord 1 of 66 in MEDLINE(R) on CD 2001/07
The following MEDLINE items were compiled by SilverPlatter and are presented with their generous co-operation and permission. (See SilverPlatter's Worldwide Library for bibliographic search information.)
TITLE: Neurofibromatosis type 1: a diagnostic mimicker at CT.
AUTHOR: Fortman,-B-J; Kuszyk,-B-S; Urban,-B-A; Fishman,-E-K
ADDRESS OF AUTHOR: Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins Hospital, 600 N Wolfe St, Baltimore, MD 21287, USA.
SOURCE: Radiographics. 2001 May-Jun; 21(3): 601-12
INTERNATIONAL STANDARD SERIAL NUMBER: 0271-5333
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: Neurofibromatosis type 1 (NF1) is the most common of the phakomatoses and has a variety of localized or, more frequently, systemic manifestations throughout the thorax, abdomen, pelvis, and extremities. Classic computed tomographic (CT) findings in NF1 with thoracic involvement include small, well-defined subcutaneous neurofibromas, focal thoracic scoliosis, posterior vertebral scalloping, enlarged neural foramina, and characteristic rib abnormalities due to bone dysplasia or erosion from adjacent neurofibromas. However, more atypical manifestations are occasionally seen, and magnetic resonance (MR) imaging can be useful in equivocal cases. NF1 with abdominopelvic involvement tends to arise in the retroperitoneal, mesenteric, and paraspinal regions; it may be quite extensive and therefore difficult to distinguish from adenopathy at CT. The multiplanar capabilities of MR imaging, particularly with T2 weighting, make this modality helpful in evaluating affected patients and making the diagnosis. The classic peripheral manifestations of NF1 include limb hemihypertrophy, pseudarthrosis, peripheral nerve neurofibromas, and subcutaneous common and plexiform neurofibromas. In some cases of NF1, imaging findings are inconclusive, and biopsy and subsequent pathologic analysis are required. Familiarity with the various manifestations of NF1 in different anatomic locations is important in making the diagnosis and optimizing postdiagnostic treatment.
MAJOR MESH DESCRIPTORS: *Neurofibromatosis-1-radiography; *Tomography,-X-Ray-Computed
MINOR MESH DESCRIPTORS: Diagnosis,-Differential; Magnetic-Resonance-Imaging; Neurofibromatosis-1-pathology
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: pathology; radiography
SUBSET: Index-Medicus
UPDATE CODE: 20010802
ACCESSION NUMBER: 21251316
RECORD FEATURES: ABSTRACT (AB)
Record 2 of 66 in MEDLINE(R) on CD 2001/07
TITLE: Chest wall hamartoma with Wiedemann-Beckwith syndrome: clinical report and brief review of chromosome 11p15.5-related tumors.
AUTHOR: Jonas,-R-E; Kimonis,-V-E
ADDRESS OF AUTHOR: Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois 62794-9230, USA.
SOURCE: Am-J-Med-Genet. 2001 Jul 1; 101(3): 221-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: A girl born with a left chest wall hamartoma, macroglossia, nevus flammeus of the middle forehead, and a small umbilical hernia developed left lower extremity hemihypertrophy by 1 year of age and is assumed to have Wiedemann-Beckwith syndrome. Hamartoma of the bladder and a cardiac fibrous hamartoma have been reported previously in association with Wiedemann-Beckwith syndrome. Infantile hamartomas are exceedingly rare and add to the spectrum of tumor formation in the syndrome. Copyright 2001 Wiley-Liss, Inc.
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-pathology; *Hamartoma-pathology; *Thoracic-Diseases-pathology
MINOR MESH DESCRIPTORS: Adolescence-; Beckwith-Wiedemann-Syndrome-complications; Beckwith-Wiedemann-Syndrome-genetics; Child-; Child,-Preschool; Chromosomes,-Human,-Pair-11-genetics; Hamartoma-complications; Hamartoma-genetics; Infant-; Neoplasms-genetics; Thoracic-Diseases-complications; Thoracic-Diseases-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review-of-Reported-Cases
SUBHEADINGS: complications; genetics; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20010726
ACCESSION NUMBER: 21314948
RECORD FEATURES: ABSTRACT (AB)
Record 3 of 66 in MEDLINE(R) on CD 2001/07
TITLE: Diagnose-Quiz. Hyperglykamie bei kongenitaler Hemihypertrophie. Cushing-Syndrom durch bilaterale Nebennierenrindenadenome in Verbindung mit einem Klippel-Trenaunay-Syndrom.
[Diagnostic quiz. Hyperglycemia in congenital hemihypertrophy. Cushing syndrome due to bilateral adrenal gland adenomas in Klippel-Trenaunay syndrome]
AUTHOR: Fuessl,-H-S
ADDRESS OF AUTHOR: Bezirkskrankenhaus Haar, Haus 33 a, D-85529 Haar.
SOURCE: MMW-Fortschr-Med. 2001 May 3; 143(18): 41-2
INTERNATIONAL STANDARD SERIAL NUMBER: 1438-3276
PUBLICATION YEAR: 2001
LANGUAGE: German; Non-English
COUNTRY OF PUBLICATION: Germany
MAJOR MESH DESCRIPTORS: *Adenoma-diagnosis; *Adrenal-Gland-Neoplasms-diagnosis; *Cushing-Syndrome-diagnosis; *Hyperglycemia-etiology; *Klippel-Trenaunay-Weber-Syndrome-diagnosis; *Neoplasms,-Multiple-Primary-diagnosis
MINOR MESH DESCRIPTORS: Diagnosis,-Differential; Middle-Age
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; etiology
SUBSET: Index-Medicus
UPDATE CODE: 20010726
ACCESSION NUMBER: 21282005
Record 4 of 66 in MEDLINE (R) 2001/01-2001/05
TITLE: Growth regulation, acid sphingomyelinase gene and genomic imprinting: lessons from an experiment of nature.
AUTHOR: Rethy,-L-A
ADDRESS OF AUTHOR: Independent Research Group for Genetics-and Immunology, Budapest, Hungary. retlaj@yahoo.com
SOURCE: Pathol-Oncol-Res. 2000; 6(4): 298-300
INTERNATIONAL STANDARD SERIAL NUMBER: 1219-4956
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: England
ABSTRACT: The author investigated the possible role of acid sphingomyelinase (ASM) gene (SMPD1) in the regulation of growth, in connection with an experiment of nature. The association of a decreased ASM activity and an overgrowth disorder, Beckwith-Wiedemann Syndrome (BWS) with hemihypertrophy has been described at a 23 months old boy in a recent case report (Rethy et al, in this issue). ASM catalyses the production of ceramide, a key molecule of apoptosis, from sphingomyelin. Based on these data it is suggested that the ASM gene (SMPD1) can suppress/counterbalance the anti-apoptotic effects of BWSrelated growth-promoters, like IGF-II, under normal circumstances. Recent literary data support this view. ASM deficient lymphoblasts derived from patients with Niemann-Pick disease (NPD) fail to undergo apoptosis in response to external signals and Fas cross-linking. BWS-related genes are considered to be regulated by genomic imprinting. Therefore the author compared some characteristics of both SMPD1 and imprinted genes. The analyzed features of SMPD1 gene (few and small introns, Alu 1 repeat element, CC-rich regulatory region, alternative splicing) are characteristic to imprinted genes. Hemihypertrophy, mentioned in the referred BWS-case, is distinctive to the involvement of the maternal allele of the second BWS chromosomal region (BWSCR2) at 11p15.3. The SMPDI gene has been localized just distal to the B05 breakpoint of BWSCR2. Furthermore, in BWS-associated tumors, the loss of heterozygosity (LOH) found on 11p15 was always maternal. Thus, in the case referred to with ASM deficiency the maternal allele has certainly been effected. These conclusions are in accordance with the 'cluster-model of imprinting' as well as with the conflict theory of imprinting. Taken together, the above mentioned clinical and experimental data suggest that SMPD1, most likely at 11p15.4, is an imprinted, maternally expressed, BWS- and apoptosis-related growth suppressor gene. Further studies are necessary to prove this hypothesis.
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-genetics; *Growth-; *Sphingomyelin-Phosphodiesterase-genetics
MINOR MESH DESCRIPTORS: Beckwith-Wiedemann-Syndrome-physiopathology; Genomic-Imprinting; Infant-; Sphingomyelin-Phosphodiesterase-physiology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; physiopathology; physiology
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.1.4.12
NAME OF SUBSTANCE: Sphingomyelin-Phosphodiesterase
SUBSET: Index-Medicus
UPDATE CODE: 20010517
ACCESSION NUMBER: 21204314
RECORD FEATURES: ABSTRACT (AB)
Record 5 of 66 in MEDLINE (R) 2001/01-2001/05
TITLE: Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome.
AUTHOR: Rethy-,-L-A; Kalmanchey-,-R; Klujber-,-V; Koos-,-R; Fekete-,-G
ADDRESS OF AUTHOR: Department of Paediatrics, Semmelweis University, Budapest, Hungary. retlaj@yahoo.com
SOURCE: Pathol-Oncol-Res. 2000; 6(4): 295-7
INTERNATIONAL STANDARD SERIAL NUMBER: 1219-4956
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: England
ABSTRACT: We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35% in a 23 months old Hungarian boy. Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from the praenatal history), hemihypertrophy, craniofacial dysmorphy, a mild mental retardation, bilaterally undescended testes, cardiac anomalies and a terminally developed, fatal embryonal rhabdomyosarcoma were present in the patient. The decreased activity of the ASM was measured in the patient s skin fibroblasts. This result, with hepatomegaly, mental retardation, feeding problems, a failure to thrive and muscle-hypotony, partially resembled the ASM-deficient forms of Niemann-Pick disease (NPD). Morphological analysis of the bone-marrow cells gave normal results. There was no chromosomal alteration found by conventional karyotyping of the patient s lymphocytes.BWS-associated genes as well as the human ASM gene (SMPD1) are all located at 11p15. DNA-studies by region specific markers as well as mutational analysis for the most common NPD-mutations are planned in the future. This is the first report on the simultaneous occurrence of BWS and ASM-deficiency.
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-complications; *Sphingomyelin-Phosphodiesterase-deficiency
MINOR MESH DESCRIPTORS: Infant-; Insulin-Like-Growth-Factor-II-metabolism; Rhabdomyosarcoma,-Embryonal-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; metabolism; deficiency
CAS REGISTRY NUMBER OR EC NUMBER: 67763-97-7; EC 3.1.4.12
NAME OF SUBSTANCE: Insulin-Like-Growth-Factor-II; Sphingomyelin-Phosphodiesterase
SUBSET: Index-Medicus
UPDATE CODE: 20010517
ACCESSION NUMBER: 21111254
RECORD FEATURES: ABSTRACT (AB)
Record 6 of 66 in MEDLINE (R) 2001/01-2001/05
TITLE: A child with adrenocortical adenoma accompanied by congenital hemihypertrophy: report of a case.
AUTHOR: Hara,-F; Kishikawa,-T; Tomishige,-H; Nishikawa,-O; Nishida,-Y; Kongo,-M
ADDRESS OF AUTHOR: Department of Pediatric Surgery, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.
SOURCE: Surg-Today. 2000; 30(9): 861-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0941-1291
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: We report herein the findings of a 7-year-old male child with a ruptured adrenocortical adenoma and congenital hemihypertrophy which was incidentally detected after suffering a trauma. A review of 21 pediatric cases of adrenocortical neoplasms in the literature was made. The patient showed precocious puberty such as pubis and advanced bone age, but an endocrinological examination revealed no definite abnormalities. The right adrenal tumor with hematoma was resected after these evaluations. Adrenocortical adenoma is considered to occur more frequently in female children. However, the incidence of adrenocortical tumors accompanied by congenital hemihypertrophy does not differ between males and females. The outcomes were relatively good, although the observation periods were short in some patients. A large number of patients presented with a tumor and hemihypertrophy on the same side. This finding is of interest when considering the possible association between hemihypertrophy of the organs and tumor proliferation. However, their association in terms of development was unclear. It is necessary for patients with hemihypertrophy to have regular examinations for the possible development of malignant tumors, especially in the kidney, adrenal gland, and liver.
MAJOR MESH DESCRIPTORS: *Adenoma,-Adrenal-Cortical-complications; *Adrenal-Cortex-Neoplasms-complications
MINOR MESH DESCRIPTORS: Child-; Hypertrophy-congenital; Laterality-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review-of-Reported-Cases
SUBHEADINGS: complications; congenital
SUBSET: Index-Medicus
UPDATE CODE: 20010222
ACCESSION NUMBER: 20492865
RECORD FEATURES: ABSTRACT (AB)
Record 7 of 66 in MEDLINE (R) 2001/01-2001/05
TITLE: Intraabdominal lymphangiomyoma in an infant with protein-losing enteropathy and hemihypertrophy.
AUTHOR: Koltuksuz,-U; Ozgen,-U; Ozen,-S; Sarac,-K; Gursoy,-M-H
ADDRESS OF AUTHOR: Department of Pediatric Surgery, Inonu University Faculty of Medicine, Malatya, Turkey.
SOURCE: Turk-J-Pediatr. 2000 Oct-Dec; 42(4): 341-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0041-4301
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: Turkey
ABSTRACT: Lymphangiomyoma is an extremely rare tumor occurring exclusively in women of reproductive age. The tumor is characterized by proliferation of immature smooth muscle along the lymphatic vessels of the abdomen, thorax and lung. Although lymphangiomyoma has been reported in a young girl and a girl infant, none has been reported in boys. We report herein a case of lymphangiomyoma in a two-year-old boy. The unusual presentation in this patient was that the tumor arose from the small bowel mesentery without any evidence of lung involvement. The tumor was extirpated and lymphangiomyomatosis was confirmed pathologically.
MAJOR MESH DESCRIPTORS: *Intestinal-Neoplasms-complications; *Intestinal-Neoplasms-pathology; *Intestinal-Neoplasms-surgery; *Intestine,-Small; *Lymphangiomyoma-complications; *Lymphangiomyoma-pathology; *Lymphangiomyoma-surgery; *Protein-Losing-Enteropathies-etiology
MINOR MESH DESCRIPTORS: Anastomosis,-Surgical; Infant-; Tomography,-X-Ray-Computed
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; pathology; surgery; etiology
SUBSET: Index-Medicus
UPDATE CODE: 20010215
ACCESSION NUMBER: 21040999
RECORD FEATURES: ABSTRACT (AB)
Record 8 of 66 in MEDLINE (R) 2001/01-2001/05
TITLE: Klippel-Trenaunay syndrome: frequency of cerebral and cerebellar hemihypertrophy on MRI.
AUTHOR: Torregrosa,-A; Marti-Bonmati,-L; Higueras,-V; Poyatos,-C; Sanchis,-A
ADDRESS OF AUTHOR: Department of Radiology, Doctor Peset University Hospital, Valencia, Spain.
SOURCE: Neuroradiology. 2000 Jun; 42(6): 420-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3940
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We examined 11 patients, clinically and radiographically diagnosed as having the Klippel-Trenaunay syndrome (KTS) by MRI. There were four females and seven males, aged 3-51 years (mean 21 years). Two had clear asymmetry of the cerebral and cerebellar hemispheres. The thickness of the grey matter was normal, without sulcation abnormalities, but the thickness of the white matter was increased; the size of the ipsilateral ventricle was normal. These patients had hypertrophy of the leg and a cutaneous haemangioma on the same side as the brain abnormality. No patient had an intracranial vascular malformation, unilateral megalencephaly, cerebral atrophy or hydrocephalus. The prevalence of cerebral hemihypertrophy in our series of patients with KTS was thus 18%.
MAJOR MESH DESCRIPTORS: *Cerebellum-pathology; *Cerebral-Cortex-pathology; *Dominance,-Cerebral-physiology; *Klippel-Trenaunay-Weber-Syndrome-diagnosis; *Magnetic-Resonance-Imaging
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Cerebral-Angiography; Child-; Child,-Preschool; Hypertrophy-; Image-Processing,-Computer-Assisted; Middle-Age
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; physiology; diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001211
ACCESSION NUMBER: 20385596
RECORD FEATURES: ABSTRACT (AB)
Record 9 of 66 in MEDLINE (R) 2001/01-2001/05
TITLE: Hemimegalencephaly in hypomelanosis of Ito: early sonographic pattern and peculiar MR findings in a newborn.
AUTHOR: Auriemma,-A; Agostinis,-C; Bianchi,-P; Bellan,-C; Salvoni,-L; Manara,-O; Colombo,-A
ADDRESS OF AUTHOR: Neonatal Intensive Care Unit, Ospedali Riuniti di Bergamo, I-24128, Bergamo, Italy.
SOURCE: Eur-J-Ultrasound. 2000 Sep; 12(1): 61-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0929-8266
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: IRELAND
ABSTRACT: Sonography is a reliable tool for the evaluation of the most severe congenital abnormalities of the brain; in the present case it provided an early demonstration of hemimegalencephaly in hypomelanosis of Ito in a newborn affected by body hemihypertrophy and skin lesions. Serial magnetic resonance (MR) examinations confirmed the asymmetry of the cerebral hemispheres, and documented the evolution of the hemispheric growth and the presence of unusual aspects.
MAJOR MESH DESCRIPTORS: *Brain-abnormalities; *Magnetic-Resonance-Imaging; *Pigmentation-Disorders-diagnosis; *Ultrasonography,-Doppler,-Transcranial
MINOR MESH DESCRIPTORS: Diagnosis,-Differential; Infant,-Newborn; Pigmentation-Disorders-congenital; Seizures-diagnosis; Seizures-etiology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; congenital; diagnosis; etiology
SUBSET: Index-Medicus
UPDATE CODE: 20001025
ACCESSION NUMBER: 20453846
RECORD FEATURES: ABSTRACT (AB)
Record 10 of 66 in MEDLINE (R) 2000
TITLE: Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
AUTHOR: Zhou,-X-P; Marsh,-D-J; Hampel,-H; Mulliken,-J-B; Gimm,-O; Eng,-C
ADDRESS OF AUTHOR: Clinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, Columbus, OH 43210, USA,
SOURCE: Hum-Mol-Genet. 2000 Mar 22; 9(5): 765-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 2000
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia. PTEN is a tumour suppressor and dual-specificity phosphatase which affects apoptosis via its lipid phosphatase activity in the phosphoinositol-3-kinase and AKT pathway as well as inhibiting cell spreading via the focal adhesion kinase pathway. CS and BRR share some features, such as hamartomas and lipomatosis. To determine whether other syndromes characterized by overgrowth and lipomas are part of the PTEN syndrome spectrum, we ascertained six individuals with overgrowth and lipomas but who did not meet the diagnostic criteria for CS or BRR. Five had Proteus syndrome and one, a Proteus-like syndrome. When germline DNA and DNA from at least one involved tissue per case were examined for PTEN mutations, only the Proteus-like patient was found to harbour a germline R335X mutation. Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X. Both mutations have been described in CS and BRR. We postulate that the second hit, R130X, occurred early in embryonic development and may even represent germline mosaicism. Thus, PTEN may be involved in Proteus-like syndrome with its implications for cancer development in the future.
MAJOR MESH DESCRIPTORS: *Arteriovenous-Malformations-genetics; *Germ-Line-Mutation; *Limb-Deformities,-Congenital-genetics; *Lipomatosis-genetics; *Phosphoric-Monoester-Hydrolases-genetics; *Proteus-Syndrome-genetics
MINOR MESH DESCRIPTORS: Base-Sequence; DNA-Primers; Hypertrophy-; Reverse-Transcriptase-Polymerase-Chain-Reaction
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics
CAS REGISTRY NUMBER OR EC NUMBER: 0; EC 3.1.3; EC 3.1.3.-
NAME OF SUBSTANCE: DNA-Primers; Phosphoric-Monoester-Hydrolases; PTEN-protein
CONTRACT OR GRANT NUMBERS: P30CA16058CANCI
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 20215304
RECORD FEATURES: ABSTRACT (AB)
Record 11 of 66 in MEDLINE (R) 1999 Part B
TITLE: Oral manifestations of Schimmelpenning syndrome: case report and review of literature.
AUTHOR: Murakami,-A; Skovby,-F; Andreasen,-J-O; Cohen,-M-M; Jensen,-B-L; Kreiborg,-S
ADDRESS OF AUTHOR: Department of Pediatric Dentistry, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Denmark.
SOURCE: Ann-Acad-Med-Singapore. 1999 Sep; 28(5): 744-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0304-4602
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: SINGAPORE
ABSTRACT: Schimmelpenning syndrome (SS) is characterised by specific skin manifestations, skeletal defects, and central nervous system abnormalities. Here, the SS is briefly reviewed, and the oral and dental manifestations are described in a patient whose medical findings were previously published and included severe hypophosphatemic rickets. Significant oral and dental features included papillomatous lesions of the gingiva, hemihyperplasia (hemihypertrophy) of the tongue, bone cysts, aplasia of teeth, enlarged pulp chambers, hypoplastic or absent enamel, and an odontodysplasia-like permanent tooth.
MAJOR MESH DESCRIPTORS: *Hamartoma-complications; *Mouth-Diseases-etiology; *Skin-Diseases-complications
MINOR MESH DESCRIPTORS: Adolescence-; Alopecia-complications; Child-; Child,-Preschool; Follow-Up-Studies; Gingival-Hyperplasia-etiology; Gingival-Hyperplasia-surgery; Gingivectomy-; Hamartoma-pathology; Mouth-Diseases-pathology; Mouth-Diseases-surgery; Skin-Diseases-pathology; Syndrome-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review-of-Reported-Cases
SUBHEADINGS: complications; etiology; surgery; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 20065231
RECORD FEATURES: ABSTRACT (AB)
Record 12 of 66 in MEDLINE (R) 1999 Part B
TITLE: Segmental nevus depigmentosus: analysis of 20 patients.
AUTHOR: Di-Lernia,-V
ADDRESS OF AUTHOR: Department of Dermatology, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. dilernia.vito@asmn.re.it
SOURCE: Pediatr-Dermatol. 1999 Sep-Oct; 16(5): 349-53
INTERNATIONAL STANDARD SERIAL NUMBER: 0736-8046
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Achromic nevus or nevus depigmentosus is a cutaneous abnormality consisting of a hypopigmented macular lesion which can present as circumscribed irregular, oval, or round or as a unilateral band or streak with a blocklike configuration or arranged along one or more Blaschko lines. When it is systematized, it is indistinguishable from hypomelanosis of Ito. Pigmentary anomalies along the lines of Blaschko can be associated with systemic features. For these reasons, 20 children, referred consecutively for evaluation of segmental, linear achromic nevus, were evaluated to define the incidence of associated abnormal systemic features. Extracutaneous abnormalities were present in 2 of 20 children (10%). The anomalies consisted of pes cavus ipsilateral to the hypopigmentation in one child and mental retardation, seizures, and hemihypertrophy in the second. This study confirms that achromic nevus, even when distributed along Blaschko lines, is commonly a benign lesion that is associated with systemic features in a small minority of cases.
MAJOR MESH DESCRIPTORS: *Hypopigmentation-etiology; *Nevus-diagnosis; *Skin-Neoplasms-diagnosis
MINOR MESH DESCRIPTORS: Child-; Child,-Preschool; Evaluation-Studies; Hypopigmentation-epidemiology; Incidence-; Infant-; Italy-epidemiology; Nevus-complications; Nevus-epidemiology; Retrospective-Studies; Skin-Neoplasms-complications; Skin-Neoplasms-epidemiology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: epidemiology; etiology; complications; diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 20040576
RECORD FEATURES: ABSTRACT (AB)
Record 13 of 66 in MEDLINE (R) 1999 Part B
TITLE: A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma.
AUTHOR: Thong,-M-K; Thompson,-E; Keenan,-R; Simmer,-K; Harbord,-M; Davidson,-G; Haan,-E
ADDRESS OF AUTHOR: South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, Australia. thongmk@mail.wch.sa.gov.au
SOURCE: Clin-Dysmorphol. 1999 Oct; 8(4): 283-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0962-8827
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple; *Developmental-Disabilities; *Head-abnormalities; *Intestines-abnormalities; *Lymphangiectasis-congenital; *Skin-blood-supply
MINOR MESH DESCRIPTORS: Child,-Preschool; Pigmentation-Disorders; Psychomotor-Performance
CHECKTAGS: Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; congenital; blood-supply
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 20001187
RECORD FEATURES: ABSTRACT (AB)
Record 14 of 66 in MEDLINE (R) 1999 Part A
TITLE: Neurofibromatosis in children: the role of the orthopaedist.
AUTHOR: Crawford,-A-H; Schorry,-E-K
ADDRESS OF AUTHOR: Division of Human Genetics, Children's Hospital Medical Center, Cincinnati 45229-3039, USA.
SOURCE: J-Am-Acad-Orthop-Surg. 1999 Jul-Aug; 7(4): 217-30
INTERNATIONAL STANDARD SERIAL NUMBER: 1067-151X
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Type 1 neurofibromatosis (NF-1), also known as von Recklinghausen disease, is one of the most common human single-gene disorders, affecting at least 1 million persons throughout the world. It encompasses a spectrum of multifaceted disorders and may present with a wide range of clinical manifestations, including abnormalities of the skin, nervous tissue, bones, and soft tissues. The condition can be conclusively diagnosed when two of seven criteria established by the National Institutes of Health Consensus Development Conference are met. Most children with NF-1 have no major orthopaedic problems. For those with musculoskeletal involvement, the most important issue is early recognition. Spinal deformity, congenital tibial dysplasia (congenital bowing and pseudarthrosis), and disorders of excessive bone and soft-tissue growth are the three types of musculoskeletal manifestations that require evaluation. Statistics gathered from the Cincinnati Children's Hospital Neurofibromatosis Center database show the incidence of spinal deformity in children with NF-1 to be 23.6%; pectus deformity, 4.3%; limb-length inequality, 7.1%; congenital tibial dysplasia, 5.7%; hemihypertrophy, 1.4%; and plexiform neurofibromas, 25%. The orthopaedic complications can be managed, but only rarely are they cured.
MAJOR MESH DESCRIPTORS: *Bone-Diseases,-Developmental-surgery; *Bone-Neoplasms-surgery; *Neurofibromatosis-1-surgery; *Orthopedic-Procedures
MINOR MESH DESCRIPTORS: Bone-Diseases,-Developmental-diagnosis; Bone-Neoplasms-diagnosis; Child-; Neurofibromatosis-1-diagnosis; Patient-Care-Team
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: diagnosis; surgery
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99365495
RECORD FEATURES: ABSTRACT (AB)
Record 15 of 66 in MEDLINE (R) 1999 Part A
TITLE: Adrenocortical neoplasms in children: radiologic-pathologic correlation.
AUTHOR: Agrons,-G-A; Lonergan,-G-J; Dickey,-G-E; Perez-Monte,-J-E
ADDRESS OF AUTHOR: Department of Radiology, Pennsylvania Hospital, Philadelphia 19107, USA.
SOURCE: Radiographics. 1999 Jul-Aug; 19(4): 989-1008
INTERNATIONAL STANDARD SERIAL NUMBER: 0271-5333
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Primary neoplasms of the adrenal cortex are rare in children and differ significantly in epidemiology, clinical characteristics, and biologic features from their counterparts in adults. In children, the inclusive term adrenocortical neoplasm is applied because adrenal adenoma and adrenal carcinoma may be difficult to distinguish histopathologically. Pediatric adrenocortical neoplasms typically occur before 5 years of age, affect young girls more commonly than boys, and are associated with hemihypertrophy and Beckwith-Wiedemann and Li-Fraumeni syndromes. Most children with an adrenocortical neoplasm present with signs and symptoms of endocrine abnormality, including virilization and Cushing syndrome. Cross-sectional imaging studies typically demonstrate a large, circumscribed, predominantly solid suprarenal mass with variable heterogeneity due to hemorrhage and necrosis. Calcification is not uncommon. Local invasion and metastases to the lungs, liver, and regional lymph nodes may be present at diagnosis. When friable tumor thrombus extends into the inferior vena cava, it poses a high risk of pulmonary embolization. The finding of increased retroperitoneal fat due to hypercortisolism on computed tomographic and magnetic resonance images of children with an adrenal mass favors the diagnosis of adrenocortical neoplasm. Surgical resection is the mainstay of therapy, with chemotherapy used for patients with metastases or persistent elevated hormone levels following surgery. Patients younger than 5 years with aggressive adrenocortical neoplasms fare better than older children.
MAJOR MESH DESCRIPTORS: *Adrenal-Cortex-Neoplasms-pathology; *Diagnostic-Imaging
MINOR MESH DESCRIPTORS: Adolescence-; Adrenal-Cortex-Neoplasms-complications; Adrenal-Cortex-Neoplasms-diagnosis; Child-; Child,-Preschool; Diagnosis,-Differential; Infant-
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: complications; diagnosis; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99394071
RECORD FEATURES: ABSTRACT (AB)
Record 16 of 66 in MEDLINE (R) 1999 Part A
TITLE: Orthotopic liver transplantation for unresectable hepatoblastoma: a single center's experience.
AUTHOR: Al-Qabandi,-W; Jenkinson,-H-C; Buckels,-J-A; Mayer,-A-D; McKiernan,-P; Morland,-B; John,-P; Kelly,-D
ADDRESS OF AUTHOR: Department of Oncology, The Birmingham Children's Hospital NHS Trust, England.
SOURCE: J-Pediatr-Surg. 1999 Aug; 34(8): 1261-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3468
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND/PURPOSE: Complete surgical resection after chemotherapy is the definitive treatment for hepatoblastoma. However, orthotopic liver transplantation (OLT) is now accepted as a treatment modality for patients with unresectable tumours. The aim of this study was to review a single center's experience of OLT for unresectable hepatoblastoma. METHODS: A retrospective review of 8 patients with unresectable hepatoblastoma who were referred for liver transplantation was conducted. RESULTS: The patients assessed had an age range of 5 to 105 months at presentation; median, 24 months, (5 boys; 3 girls). Two patients have familial adenomatous polyposis, and one has right hemihypertrophy. All 8 patients had received standard chemotherapy according to SIOP (International Society of Pediatric Oncology) protocols. Extrahepatic metastases were found in 3 patients at diagnosis, but none had detectable metastases at the time of OLT. Four patients continued chemotherapy while awaiting OLT. Three patients received whole grafts, and 5 received reduced grafts. The median follow-up period was 22 months (range, 2 to 78 months). Five patients are alive and well, although 1 patient had a second OLT for biliary cirrhosis secondary to biliary stricture at 6 years. Three patients died: one 26 days post OLT of sepsis and two of disease recurrence at 22 months and 70 months posttransplant. The actuarial survival rate is 88% and 65% at 1 and 5 years, respectively, whereas the overall survival rate is 62.5%. CONCLUSION: OLT for unresectable hepatoblastoma without extra hepatic metastases is highly successful with a low recurrence rate.
MAJOR MESH DESCRIPTORS: *Hepatoblastoma-surgery; *Liver-Neoplasms-surgery; *Liver-Transplantation
MINOR MESH DESCRIPTORS: Antineoplastic-Agents,-Combined-therapeutic-use; Child,-Preschool; Follow-Up-Studies; Hepatoblastoma-drug-therapy; Hepatoblastoma-mortality; Liver-Neoplasms-drug-therapy; Liver-Neoplasms-mortality; Retrospective-Studies; Survival-Rate
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: therapeutic-use; drug-therapy; mortality; surgery
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Antineoplastic-Agents,-Combined
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99394484
RECORD FEATURES: ABSTRACT (AB)
Record 17 of 66 in MEDLINE (R) 1999 Part A
TITLE: Congenital hemihypertrophy and epithelioid haemangioendothelioma in a 10-year-old boy: a case report.
AUTHOR: Miller,-J-H; Gillet,-P-M; Hendry,-G-M; Wallace,-W-H
ADDRESS OF AUTHOR: Department of Radiology, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 1LF, UK.
SOURCE: Pediatr-Radiol. 1999 Aug; 29(8): 613-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0449
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Epithelioid haemangioendothelioma has not been previously described in a patient with congenital hemihypertrophy and diabetes mellitus. Hepatic nodules were incidentally discovered on a routine US examination searching for known associated abnormalities. Pulmonary nodules were present on chest X-ray and CT of the lungs. The diagnosis was confirmed by open biopsy of a hepatic nodule. Despite significant disease progression the patient remains symptom free.
MAJOR MESH DESCRIPTORS: *Hemangioendothelioma,-Epithelioid-congenital; *Leg-abnormalities; *Liver-Neoplasms-congenital; *Lung-Neoplasms-congenital; *Neoplasms,-Multiple-Primary-congenital
MINOR MESH DESCRIPTORS: Child-; Disease-Progression; Hemangioendothelioma,-Epithelioid-diagnosis; Hypertrophy-congenital; Liver-Neoplasms-diagnosis; Lung-Neoplasms-diagnosis; Magnetic-Resonance-Imaging; Neoplasms,-Multiple-Primary-diagnosis; Tomography,-X-Ray-Computed
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: congenital; diagnosis; abnormalities
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99346262
RECORD FEATURES: ABSTRACT (AB)
Record 18 of 66 in MEDLINE (R) 1999 Part A
TITLE: Atypical pulmonary artery sling with diffuse-type pulmonary arteriovenous fistula.
AUTHOR: Huh,-J; Choi,-J-Y; Kim,-Y-W; Noh,-C-I; Yun,-Y-S; Son,-C-S; Tockgo,-Y-C
ADDRESS OF AUTHOR: Department of Pediatrics, Seoul National University College of Medicine, Korea.
SOURCE: J-Korean-Med-Sci. 1999 Feb; 14(1): 80-4
INTERNATIONAL STANDARD SERIAL NUMBER: 1011-8934
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: KOREA-(SOUTH)
ABSTRACT: The case of a cyanotic infant with a rare combination of atypical pulmonary artery sling, imperforate anus, absence of the left kidney, interruption of the inferior vena cava, left side hemihypertrophy and diffuse-type pulmonary arteriovenous fistula is described. The clinical features were confusing, because of compounding abnormalities involving the respiratory tract and pulmonary circulation. The diagnostic approach to the etiology of cyanosis is discussed and the embryonic origin of pulmonary artery sling is reviewed.
MAJOR MESH DESCRIPTORS: *Arteriovenous-Fistula-pathology; *Pulmonary-Artery-pathology
MINOR MESH DESCRIPTORS: Arteriovenous-Fistula-ultrasonography; Infant-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; ultrasonography
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99200652
RECORD FEATURES: ABSTRACT (AB)
Record 19 of 66 in MEDLINE (R) 1999 Part A
TITLE: Imaging of patients with Wilms' tumor.
AUTHOR: Goske,-M-J; Mitchell,-C; Reslan,-W-A
ADDRESS OF AUTHOR: Section of Pediatric Radiology, The Cleveland Clinic Children's Hospital, OH 44195, USA.
SOURCE: Semin-Urol-Oncol. 1999 Feb; 17(1): 11-20
INTERNATIONAL STANDARD SERIAL NUMBER: 1081-0943
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Continued advances in imaging technology have improved the ability to detect Wilms' tumor and its precursor, nephroblastomatosis, as well as tumor spread to other organs in a less invasive manner than in years past. However, there is still wide variation in clinical practice in the imaging of this tumor compared with the guidelines set forth by the National Wilms' Tumor Study Group. This article reviews current imaging options and recommendations for the evaluation of children with Wilms' tumor as well as for surveillance of children with associated disorders such as hemihypertrophy.
MAJOR MESH DESCRIPTORS: *Kidney-Neoplasms-diagnosis; *Nephroblastoma-diagnosis
MINOR MESH DESCRIPTORS: Child,-Preschool; Kidney-Neoplasms-radiography; Kidney-Neoplasms-ultrasonography; Magnetic-Resonance-Imaging; Nephroblastoma-radiography; Nephroblastoma-ultrasonography; Tomography,-X-Ray-Computed
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: diagnosis; radiography; ultrasonography
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99171409
RECORD FEATURES: ABSTRACT (AB)
Record 20 of 66 in MEDLINE (R) 1999 Part A
TITLE: Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy.
AUTHOR: Choyke,-P-L; Siegel,-M-J; Craft,-A-W; Green,-D-M; DeBaun,-M-R
ADDRESS OF AUTHOR: Department of Radiology, National Institutes of Health, Bethesda, Maryland, USA.
SOURCE: Med-Pediatr-Oncol. 1999 Mar; 32(3): 196-200
INTERNATIONAL STANDARD SERIAL NUMBER: 0098-1532
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Children with Beckwith-Wiedemann syndrome and idiopathic hemihypertrophy (BWS/HH) are at increased risk for developing Wilms tumor and screening with abdominal sonography is frequently recommended. However, there is a paucity of published data supporting this strategy. The purpose of this study was to determine whether sonographic screening at intervals of 4 months or less reduced the proportion of late-stage Wilms Tumor (WT) in children with BWS/HH. PROCEDURE: A case series analysis was employed to compare the proportion of late-stage (stage III or IV) Wilms tumor in patients with BWS/HH who were screened with sonography (n = 15) to the proportion of late-stage Wilms tumor in unscreened patients with BWS/HH (n = 59). Patients were identified from the BWS Registry and from previously published studies. Screened patients had sonograms at intervals of 4 months or less. RESULTS: None of the 12 screened children with Wilms tumor had late-stage disease, whereas 25 of 59 (42%) of unscreened children had late-stage Wilms tumor, a difference that was statistically significant (P < 0.003). Three children had false positive screening studies. They were operated on for suspected Wilms tumor but the lesions proved to be complicated renal cysts (n = 2) or nephroblastomatosis (n = 1). CONCLUSIONS: This study suggests that children with BWS/HH may benefit from screening sonograms at intervals of 4 months or less. However, false positive screening exams may result in unnecessary surgery. Given the rarity of BWS/HH, a larger, prospective international screening study is necessary to determine if the benefits of screening outweigh the risks.
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-complications; *Nephroblastoma-ultrasonography
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Child-; Child,-Preschool; Hypertrophy-; Infant-; Infant,-Newborn; Mass-Screening; Neoplasm-Staging; Nephroblastoma-etiology; Nephroblastoma-pathology
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; etiology; pathology; ultrasonography
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99161950
RECORD FEATURES: ABSTRACT (AB)
Record 21 of 66 in MEDLINE (R) 1999 Part A
TITLE: Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome.
AUTHOR: Borer,-J-G; Kaefer,-M; Barnewolt,-C-E; Elias,-E-R; Hobbs,-N; Retik,-A-B; Peters,-C-A
ADDRESS OF AUTHOR: Department of Urology, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
SOURCE: J-Urol. 1999 Jan; 161(1): 235-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-5347
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: The Beckwith-Wiedemann syndrome is most commonly characterized by macroglossia and abdominal wall defect(s), and it carries a predisposition to embryonal tumors, including Wilms tumor. We report our experience with the character and incidence of renal disease in patients with the Beckwith-Wiedemann syndrome, and discuss the role of radiological followup. MATERIALS AND METHODS: We reviewed the medical records of all patients diagnosed with the Beckwith-Wiedemann syndrome who were treated at our institution between March 1979 and February 1998. Radiological followup consisted of renal ultrasound at approximately 3 to 6-month intervals with the addition of computerized tomography or magnetic resonance imaging (MRI) in patients with an indeterminate lesion(s) or nephrogenic rest(s). RESULTS: A total of 29 patients were identified. Of these cases renal ultrasound showed normal kidneys bilaterally in 19 (70%), simple cysts in 5 (19%), indeterminate lesion(s) in 2 (7%) and nephrocalcinosis in 1 (4%). Nephrogenic rests were followed with MRI in 1 patient, and 1 in whom a 2 cm. mass was revealed by followup MRI underwent partial nephrectomy and chemotherapy for stage I Wilms tumor. CONCLUSIONS: The 3.7% incidence of Wilms tumor in our patients with the Beckwith-Wiedemann syndrome is similar to that in previously published reports. Aggressive follow-up by a sensitive radiological technique is warranted in cases of the Beckwith-Wiedemann syndrome, and associated hemihypertrophy and/or nephromegaly with or without evidence of a Wilms tumor precursor. The detection of suspected malignant disease at an early stage may permit curative nephron sparing surgery.
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-complications; *Kidney-Diseases-etiology; *Kidney-Diseases-radiography
MINOR MESH DESCRIPTORS: Adolescence-; Child-; Child,-Preschool; Follow-Up-Studies; Infant-; Kidney-Diseases-pathology; Magnetic-Resonance-Imaging
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; etiology; pathology; radiography
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99155017
RECORD FEATURES: ABSTRACT (AB)
Record 22 of 66 in MEDLINE (R) 1999 Part A
TITLE: Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis.
AUTHOR: Samuel,-D-P; Tsokos,-M; DeBaun,-M-R
ADDRESS OF AUTHOR: Pediatric Branch, National Cancer Institute, National Institute of Health, Bethesda, MD 20895, USA. samueld@exchange.nih.gov
SOURCE: Med-Pediatr-Oncol. 1999 Jan; 32(1): 38-43
INTERNATIONAL STANDARD SERIAL NUMBER: 0098-1532
PUBLICATION YEAR: 1999
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Asymmetry of the limbs (conventionally known as hemihypertrophy) is one of the overgrowth syndromes occurring sporadically in the general population at a frequency of approximately 1:86,000. Hemihypertrophy is also reported as part of the Beckwith-Wiedemann syndrome which has as its cardinal features omphalocele, macroglossia and gigantism with hypoglycemia, organomegaly, renal anomalies, hemihypertrophy, and embryonal tumors occurring less frequently. Various neoplasms are also associated with isolated hemihypertrophy. Wilms tumor, adrenocortical carcinoma, and hepatoblastoma are the most frequent. Rhabdomyosarcoma, neuroblastoma, phaeochromocytoma, and undifferentiated sarcoma of the lung are encountered only rarely. Loss of heterozygosity (LOH) of chromosome 11p15.5 is strongly associated with childhood embryonal tumors, particularly Wilms tumor, hepatoblastoma, and rhabdomyosarcoma. PROCEDURE AND RESULTS: In this article, we describe an adolescent male with congenital asymmetry of the lower limbs who presented with a large poorly differentiated pelvic sarcoma. Conventional histologic, immunohistochemical, and ultrastructural studies of this tumor were insufficient for accurate subclassfication. However, positive staining for MyoD1 (a recently identified embryonically expressed marker of muscle differentiation) and LOH at the tyrosine hydroxylase locus of chromosome 11p15.5 by molecular analysis favored the diagnosis of embryonal rhabdomyosarcoma over an undifferentiated sarcoma. CONCLUSIONS: This case stresses the importance of pursuing clinical findings when they occur in conditions with an increased risk of developing cancer, which in this case was asymmetry of a limb. Also illustrated by this patient is the need for early consideration of molecular diagnostic tests where available, to refine an uncertain pathologic diagnosis that may ultimately have an impact on treatment and prognosis.
MAJOR MESH DESCRIPTORS: *Foot-Deformities,-Congenital-complications; *Leg-abnormalities; *Pelvic-Neoplasms-complications; *Rhabdomyosarcoma,-Embryonal-complications
MINOR MESH DESCRIPTORS: Adolescence-; Chromosomes,-Human,-Pair-11-genetics; Fatal-Outcome; Hypertrophy-; Immunohistochemistry-; Loss-of-Heterozygosity; Lung-Neoplasms-secondary; MyoD-Protein-analysis; Pelvic-Neoplasms-genetics; Pelvic-Neoplasms-pathology; Rhabdomyosarcoma,-Embryonal-genetics; Rhabdomyosarcoma,-Embryonal-pathology; Rhabdomyosarcoma,-Embryonal-secondary; Trans-Activators-analysis
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; complications; abnormalities; secondary; analysis; pathology
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0
NAME OF SUBSTANCE: MyoD-Protein; Trans-Activators; protein-MyoD1
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99116276
RECORD FEATURES: ABSTRACT (AB)
Record 23 of 66 in MEDLINE (R) 1998 Part B
TITLE: Yolk sac tumor of the placenta in Wiedemann-Beckwith syndrome.
AUTHOR: Drut,-R; Mortera,-M; Drut,-R-M
ADDRESS OF AUTHOR: Department of Pathology, Hospital de Ninos "Superiora Sor Maria Ludovica," 14 No. 1631, 1900 La Plata, Argentina.
SOURCE: Pediatr-Dev-Pathol. 1998 Nov-Dec; 1(6): 534-7
INTERNATIONAL STANDARD SERIAL NUMBER: 1093-5266
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The present report describes an example of multifocal (two) yolk sac tumor (YST) with mesenchyme-like and enteroid patterns found in the placenta (730 g) of a newborn (4200 g) with Wiedemann-Beckwith syndrome (WBS) phenotype (macroglossia, omphalocele, hemihypertrophy, cardiomegaly, hypoglycemia). YST has not been previously reported to develop in the placenta. This case expands further the spectrum of alterations found in the placenta in the WBS and fits in the list of tumors related to WBS. ?KW?
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-complications; *Endodermal-Sinus-Tumor-etiology; *Placenta-pathology; *Placenta-Diseases-etiology
MINOR MESH DESCRIPTORS: Adult-; Endodermal-Sinus-Tumor-pathology; Fatal-Outcome; Infant,-Newborn; Placenta-Diseases-pathology
CHECKTAGS: Case-Report; Female; Human; Pregnancy
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; etiology; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99335649
RECORD FEATURES: ABSTRACT (AB)
Record 24 of 66 in MEDLINE (R) 1998 Part B
TITLE: Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review.
AUTHOR: Hoyme,-H-E; Seaver,-L-H; Jones,-K-L; Procopio,-F; Crooks,-W; Feingold,-M
ADDRESS OF AUTHOR: Stanford University School of Medicine, Division of Medical Genetics, California 94305-5208, USA.
SOURCE: Am-J-Med-Genet. 1998 Oct 2; 79(4): 274-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Hemihyperplasia is characterized by asymmetric growth of cranium, face, trunk, limbs, and/or digits, with or without visceral involvement. It may be an isolated finding in an otherwise normal individual, or it may occur in several syndromes. Although isolated hemihyperplasia (IHH) is of unknown cause, it may represent one end of the clinical spectrum of the Wiedemann-Beckwith syndrome (WBS). Uniparental paternal disomy of 11p15.5 or altered expression of insulin-like growth factor 2 (IGF2) from the normally silent maternal allele have been implicated as causes of some cases of WBS. IHH and other mild manifestations of WBS may represent patchy overexpression of the IGF2 gene following defective imprinting in a mosaic fashion. The natural history of IHH varies markedly. An association among many overgrowth syndromes and a predisposition to neoplasia is well recognized. Heretofore the risk for tumor development in children with IHH was unknown. We report on the results of a prospective multicenter clinical study of the incidence and nature of neoplasia in children evaluated because of IHH. One hundred sixty-eight patients were ascertained. A total of 10 tumors developed in nine patients, for an overall incidence of 5.9%. Tumors were of embryonal origin (similar to those noted in other overgrowth disorders), including Wilms tumor, hepatoblastoma, adrenal cell carcinoma, and leiomyosarcoma of the small bowel in one case. These data support a tumor surveillance protocol for children with IHH similar to that performed in other syndromes associated with overgrowth.
MAJOR MESH DESCRIPTORS: *Hypertrophy-epidemiology; *Neoplasms-epidemiology
MINOR MESH DESCRIPTORS: Prospective-Studies
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Multicenter-Study; Review; Review,-Tutorial
SUBHEADINGS: epidemiology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98453168
RECORD FEATURES: ABSTRACT (AB)
Record 25 of 66 in MEDLINE (R) 1998 Part B
TITLE: Hyperglycaemia in a patient with congenital hemihypertrophy.
AUTHOR: Chan,-N-N; Warwrzkowicz,-E; Isaacs,-A-J
ADDRESS OF AUTHOR: Department of Endocrinology & Diabetes, Chelsea & Westminster Hospital, London, UK.
SOURCE: Postgrad-Med-J. 1998 Oct; 74(876): 625-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0032-5473
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
MAJOR MESH DESCRIPTORS: *Adenoma,-Adrenal-Cortical-complications; *Adrenal-Cortex-Neoplasms-complications; *Cushing-Syndrome-complications; *Hyperglycemia-etiology; *Klippel-Trenaunay-Weber-Syndrome-complications
MINOR MESH DESCRIPTORS: Hypertrophy-congenital; Middle-Age
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; etiology; congenital
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99227813
Record 26 of 66 in MEDLINE (R) 1998 Part B
TITLE: Proteus syndrome with widespread portwine stain naevus.
AUTHOR: Plotz,-S-G; Abeck,-D; Plotz,-W; Ring,-J
ADDRESS OF AUTHOR: Department of Dermatology and Allergy Biederstein, Technical University Munich, Germany.
SOURCE: Br-J-Dermatol. 1998 Dec; 139(6): 1060-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0007-0963
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Proteus syndrome is a rare condition comprising asymmetrical overgrowth of different parts of the body in association with various cutaneous abnormalities. We describe a 3-year-old boy with Proteus syndrome, who presented with hemihypertrophy of the right leg, asymmetric macrodactyly, subcutaneous masses and a widespread portwine stain interspersed with angiokeratomas on the right leg, scrotum and on the middle and left side of the back. Doppler ultrasound of the right leg did not show hypercirculation, but did reveal the absence of the right superficial femoral vein.
MAJOR MESH DESCRIPTORS: *Port-Wine-Stain-etiology; *Proteus-Syndrome-complications
MINOR MESH DESCRIPTORS: Child,-Preschool; Femoral-Vein-abnormalities; Fingers-abnormalities; Hypertrophy-; Leg-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; etiology; complications
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99144184
RECORD FEATURES: ABSTRACT (AB)
Record 27 of 66 in MEDLINE (R) 1998 Part B
TITLE: Extensive small bowel varices as a cause of severe anemia in Klippel-Trenaunay-Weber syndrome.
AUTHOR: Darwish,-K; Bleau,-B-L
ADDRESS OF AUTHOR: Digestive Diseases Division, University of Cincinnati Medical Center, Ohio, USA.
SOURCE: Am-J-Gastroenterol. 1998 Nov; 93(11): 2274-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9270
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Klippel-Trenaunay-Weber (KTW) syndrome is a rare syndrome characterized by hemangiomata, varicose veins, and both bony and soft tissue hemihypertrophy. Abdominal viscera affected by ipsilateral hemangiomata include colon, liver, spleen, jejunum, kidney, and liver. We report a case of this syndrome that presented with severe anemia and extensive jeujenal varices without any other significant digestive tract lesions.
MAJOR MESH DESCRIPTORS: *Anemia-etiology; *Jejunum-blood-supply; *Klippel-Trenaunay-Weber-Syndrome-complications; *Varicose-Veins-complications
MINOR MESH DESCRIPTORS: Adult-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: etiology; blood-supply; complications
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99036300
RECORD FEATURES: ABSTRACT (AB)
Record 28 of 66 in MEDLINE (R) 1998 Part A
TITLE: Nephrogenic rests, nephroblastomatosis, and associated lesions of the kidney.
AUTHOR: Lonergan,-G-J; Martinez-Leon,-M-I; Agrons,-G-A; Montemarano,-H; Suarez,-E-S
ADDRESS OF AUTHOR: Department of Radiologic Pathology, Armed Forces Institute of Pathology, Washington, DC 20306-6000, USA.
SOURCE: Radiographics. 1998 Jul-Aug; 18(4): 947-68
INTERNATIONAL STANDARD SERIAL NUMBER: 0271-5333
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The fetal kidney is formed by the development of nephrons from fetal metanephric blastema surrounding the ureteric bud. The fetal renal tissue matures into normal renal parenchyma during gestation, but, occasionally, fetal tissue persists into infancy as microscopic foci called nephrogenic rests. Nephrogenic rests are found in approximately 1% of infant kidneys at autopsy. Nephrogenic rests are associated with an increased risk of Wilms tumor, and it is theorized that nephrogenic rests undergo neoplastic change into Wilms tumor. Fortunately, this transformation occurs in less than 1% of young children with nephrogenic rests. Nephrogenic rests are associated with many syndromes, including Beckwith-Wiedemann syndrome, hemihypertrophy, and sporadic aniridia. Children with identifiable syndromes, once diagnosed, should be screened for the development of Wilms tumor. Nephrogenic rests are associated with other lesions such as multilocular cystic nephroma and multicystic dysplasia, usually without malignant complications.
MAJOR MESH DESCRIPTORS: *Kidney-Diseases-diagnosis; *Kidney-Neoplasms-diagnosis; *Nephroblastoma-diagnosis; *Nephrons-; *Precancerous-Conditions-diagnosis
MINOR MESH DESCRIPTORS: Beckwith-Wiedemann-Syndrome-diagnosis; Beckwith-Wiedemann-Syndrome-embryology; Beckwith-Wiedemann-Syndrome-pathology; Child-; Child,-Preschool; Choristoma-diagnosis; Choristoma-embryology; Choristoma-pathology; Diagnostic-Imaging; Infant-; Infant,-Newborn; Kidney-embryology; Kidney-pathology; Kidney-Diseases-embryology; Kidney-Diseases-pathology; Kidney-Neoplasms-embryology; Kidney-Neoplasms-pathology; Nephroblastoma-embryology; Nephroblastoma-pathology; Precancerous-Conditions-embryology; Precancerous-Conditions-pathology
CHECKTAGS: Female; Human; Male; Pregnancy
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: diagnosis; embryology; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98336851
RECORD FEATURES: ABSTRACT (AB)
Record 29 of 66 in MEDLINE (R) 1998 Part A
TITLE: Pediatric peripheral neuropathy in proteus syndrome.
AUTHOR: Choi,-M-L; Wey,-P-D; Borah,-G-L
ADDRESS OF AUTHOR: Department of Surgery, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, NJ 08903, USA.
SOURCE: Ann-Plast-Surg. 1998 May; 40(5): 528-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7043
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, pigmented skin nevi, skull exostoses, hemihypertrophy, and macrodactyly of the hands and feet. A 5-year-old girl diagnosed with Proteus syndrome presented with distal median compression neuropathy with the primary complaint of severe pain involving the left hand. Surgical exploration of the hand revealed a lipofibromatous hamartoma of the median nerve. The transverse carpal ligament was released and epineurectomy of the median nerve was performed. The patient remains symptom free at the 9-month follow-up. This report is the first description of a hamartoma directly involving a peripheral nerve in Proteus syndrome. Decompression of the nerve with the removal of the fibrofatty neural sheath resulted in the resolution of the symptoms in this patient. The surgeon should consider this approach as a potential first line of treatment before a more radical resection of the nerve is contemplated.
MAJOR MESH DESCRIPTORS: *Decompression,-Surgical-methods; *Median-Nerve-surgery; *Nerve-Compression-Syndromes-surgery; *Proteus-Syndrome-surgery
MINOR MESH DESCRIPTORS: Child,-Preschool; Hand-surgery; Median-Nerve-physiopathology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: methods; surgery; physiopathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98261068
RECORD FEATURES: ABSTRACT (AB)
Record 30 of 66 in MEDLINE (R) 1998 Part A
TITLE: A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome?
AUTHOR: Nishimura,-G; Nagai,-T
ADDRESS OF AUTHOR: Department of Radiology, Dokkyo University School of Medicine, Tochigi, Japan. gen-n@dokkyomed.ac.jp
SOURCE: J-Hum-Genet. 1998; 43(1): 65-8
INTERNATIONAL STANDARD SERIAL NUMBER: 1434-5161
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: The case of a Japanese girl with a unique combination of congenital malformations is reported. The malformations include craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation that indicated somatic mosaicism of a mutated gene or a submicroscopic chromosomal aberration. The phenotype in our patient overlapped significantly with, but was not completely consistent with, that of ter Haar syndrome, a recently elucidated malformation syndrome with an autosomal recessive trait. The present patient may have represented a previously undescribed malformation syndrome, or an atypical manifestation of ter Haar syndrome due to somatic mosaicism.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-genetics; *Craniofacial-Abnormalities-genetics; *Heart-Defects,-Congenital-genetics
MINOR MESH DESCRIPTORS: Bone-and-Bones-abnormalities; Child,-Preschool; Coccyx-; Hypopigmentation-genetics; Mosaicism-; Skin-Abnormalities-genetics; Syndrome-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; abnormalities
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98272922
RECORD FEATURES: ABSTRACT (AB)
Record 31 of 66 in MEDLINE (R) 1998 Part A
TITLE: A mild form of Proteus syndrome.
AUTHOR: Hauer,-M-P; Uhl,-M; Darge,-K; Allmann,-K; Langer,-M
ADDRESS OF AUTHOR: Abteilung Rontgendiagnostik, Radiologische Universitatsklinik, Albert-Ludwigs-Universitat Freiburg, Hugstetter Strasse 55, D-79 106 Freiburg, Germany.
SOURCE: Eur-Radiol. 1998; 8(4): 585-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0938-7994
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Proteus syndrome is a rare congenital hamartomatous syndrome. We report on the clinical and radiological appearances of a boy in order to illustrate the typical signs which include subcutaneous masses, in mild forms partial gigantism of hands and feet, hemihypertrophy, and bony abnormalities. We discuss how to make the definitive diagnosis on the basis of using a known rating scale, important aspects of differential diagnosis and clinical features, and diagnostic management.
MAJOR MESH DESCRIPTORS: *Proteus-Syndrome-diagnosis
MINOR MESH DESCRIPTORS: Child,-Preschool; Diagnosis,-Differential; Follow-Up-Studies; Magnetic-Resonance-Imaging; Severity-of-Illness-Index; Tomography,-X-Ray-Computed
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98237832
RECORD FEATURES: ABSTRACT (AB)
Record 32 of 66 in MEDLINE (R) 1998 Part A
TITLE: What syndrome is this? Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, facial hemihypertrophy and gyral malformation.
AUTHOR: Allison,-M-A; Dunn,-C-L; Pedersen,-R-C
ADDRESS OF AUTHOR: Department of Dermatology, Tripler Army Medical Center, Honolulu, Hawaii, USA.
SOURCE: Pediatr-Dermatol. 1998 Jan-Feb; 15(1): 59-61
INTERNATIONAL STANDARD SERIAL NUMBER: 0736-8046
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
MAJOR MESH DESCRIPTORS: *Brain-pathology; *Face-pathology; *Nevus-pathology; *Skin-Neoplasms-pathology
MINOR MESH DESCRIPTORS: Child,-Preschool; Diagnosis,-Differential; Hypertrophy-; Magnetic-Resonance-Imaging; Syndrome-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98156523
Record 33 of 66 in MEDLINE (R) 1998 Part A
TITLE: Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry.
AUTHOR: DeBaun,-M-R; Tucker,-M-A
ADDRESS OF AUTHOR: Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-7372, USA.
SOURCE: J-Pediatr. 1998 Mar; 132(3 Pt 1): 398-400
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: To determine the incidence and relative risk (RR) of cancer in children with Beckwith-Wiedemann syndrome (BWS), children with BWS were followed up from birth until death, diagnosis of cancer, fourth birthday, or last day of follow-up. A total of 183 children with BWS were followed up for 482 person-years. The end points were incidence of cancer, RR of cancer, and RR associated with specific BWS phenotypic features. Thirteen children were identified with cancers before the fourth year of life in comparison with fewer than one cancer expected in this group on the basis of general population rates over the same period. The average annual incidence of cancer in the first 4 years of life was 0.027 cancer per person-year. The RR of Wilms tumor (RR = 816; 95% confidence interval [CI], 359-1156), neuroblastoma (RR = 197; 95% CI, 22-711), and hepatoblastoma (RR = 2280; 95% CI, 928-11,656) were statistically significant. Asymmetry of the limbs (hemihypertrophy) was the only clinical feature associated with an increased RR of cancer (RR = 4.6; 95% CI, 1.5-14.2). Given the high incidence of cancer in infancy and early childhood of patients with BWS, a prospective study is warranted to address the utility of screening for cancer.
COMMENTS: Comment In: J Pediatr. 1998 Mar;132(3 Pt 1):377-9
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-complications; *Hepatoblastoma-complications; *Nephroblastoma-complications; *Neuroblastoma-complications
MINOR MESH DESCRIPTORS: Beckwith-Wiedemann-Syndrome-physiopathology; Child,-Preschool; Cohort-Studies; Hepatoblastoma-epidemiology; Incidence-; Infant-; Nephroblastoma-epidemiology; Neuroblastoma-epidemiology; Registries-; Risk-
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; physiopathology; epidemiology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98204450
RECORD FEATURES: ABSTRACT (AB)
Record 34 of 66 in MEDLINE (R) 1998 Part A
TITLE: Proteus syndrome. A case report of a hamartomatous syndrome with severe mandibular hemihypertrophy.
AUTHOR: Pinto,-P-X; Beale,-V; Paterson,-A-W
ADDRESS OF AUTHOR: Department of Oral and Maxillofacial Surgery, Carlisle Hospitals NHS Trust, Royal London Hospital, United Kingdom.
SOURCE: Oral-Surg-Oral-Med-Oral-Pathol-Oral-Radiol-Endod. 1998 Jan; 85(1): 82-5
INTERNATIONAL STANDARD SERIAL NUMBER: 1079-2104
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Proteus syndrome is a rare congenital hamartomatous malformation that is characterized by a wide range of deformities, including craniofacial deformities. Skin and skeletal developmental malformations are common and may assume tremendous proportions. The syndrome is often mistaken for other, more commonly recognized conditions, including neurofibromatosis. The soft-tissue masses in Proteus syndrome are not nerve tumors but are usually hamartomatous proliferations. The case report describes its varied manifestations, which include significant craniofacial dysmorphism, and discusses the differential diagnosis and management.
COMMENTS: Erratum In: Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1998 Oct;86(4):503
MAJOR MESH DESCRIPTORS: *Facial-Asymmetry-etiology; *Mandible-abnormalities; *Proteus-Syndrome-pathology
MINOR MESH DESCRIPTORS: Adult-; Proteus-Syndrome-complications
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: etiology; abnormalities; complications; pathology
SUBSET: Dental; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98134961
RECORD FEATURES: ABSTRACT (AB)
Record 35 of 66 in MEDLINE (R) 1997 Part B
TITLE: Cushing's syndrome in childhood and adolescence.
AUTHOR: Robyn,-J-A; Koch,-C-A; Montalto,-J; Yong,-A; Warne,-G-L; Batch,-J-A
ADDRESS OF AUTHOR: Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
SOURCE: J-Paediatr-Child-Health. 1997 Dec; 33(6): 522-7
INTERNATIONAL STANDARD SERIAL NUMBER: 1034-4810
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: AUSTRALIA
ABSTRACT: OBJECTIVE: To review the diagnosis, management and outcome of Cushing's syndrome in children and adolescents. METHODS: We conducted a retrospective review of nine cases treated between 1976 and 1996 at the Royal Children's Hospital, Melbourne, Australia. RESULTS: Six children with Cushing's disease and three with primary adrenal disease were identified. Mean age at diagnosis in the Cushing's disease patients was 11.3 years and in the children with primary adrenal disease 9.5 years. The most common presenting symptoms were weight gain and delayed growth. Two children had the unusual presenting symptoms of an eating disorder and hemihypertrophy, respectively. Laboratory diagnosis of Cushing's syndrome was established by demonstration of elevated urine free cortisol, loss of normal diurnal variation of serum cortisol, and loss of suppressibility of cortisol secretion by low dose dexamethasone. Investigations used to determine the aetiology of hypercortisolism included serum adrenocorticotropic hormone (ACTH) levels, high dose dexamethasone suppression tests, imaging studies, and inferior petrosal sinus sampling. Four patients with Cushing's disease had successful transphenoidal adenomectomies. Two patients with bilateral primary pigmented nodular adrenocortical dysplasia underwent bilateral adrenalectomies. One child with an adrenal adenoma was treated by left adrenalectomy. CONCLUSIONS: Cushing's syndrome in children and adolescents remains a diagnostic challenge. Successful treatment often requires the use of multiple tests to achieve the correct diagnosis, appropriate surgery and a good long-term outcome.
MAJOR MESH DESCRIPTORS: *Cushing-Syndrome-diagnosis
MINOR MESH DESCRIPTORS: Adenoma-surgery; Adolescence-; Adrenalectomy-; Age-Determination-by-Skeleton; Child-; Child,-Preschool; Circadian-Rhythm; Corticotropin-blood; Cushing-Syndrome-physiopathology; Cushing-Syndrome-surgery; Diagnosis,-Differential; Hydrocortisone-blood; Hydrocortisone-urine; Infant-; Pituitary-Gland-surgery; Pituitary-Neoplasms-surgery; Retrospective-Studies; Treatment-Outcome
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: surgery; blood; diagnosis; physiopathology; urine
CAS REGISTRY NUMBER OR EC NUMBER: 50-23-7; 9002-60-2
NAME OF SUBSTANCE: Hydrocortisone; Corticotropin
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98145717
RECORD FEATURES: ABSTRACT (AB)
Record 36 of 66 in MEDLINE (R) 1997 Part B
TITLE: Aspectos neurofisiologicos en el sindrome de Proteus.
[Neurophysiological aspects of Proteus syndrome]
AUTHOR: Manquillo,-A; Martinez-Mena,-J; Quintana,-P; Paradinas,-F; Saez,-J; Revilla,-C; Galan,-J-M
ADDRESS OF AUTHOR: Servicio de Neurofisiologia Clinica, Hospital Ramon y Cajal, Madrid, Espana.
SOURCE: Rev-Neurol. 1997 Oct; 25(146): 1572-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0210-0010
PUBLICATION YEAR: 1997
LANGUAGE: Spanish; Non-English
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: INTRODUCTION: The Proteus Syndrome was defined in 1983 by Wiedeman. However, the first case mentioned in the literature was that of Joseph Merrick, the Elephant Man, presented by Sir Frederick Treves in 1884. It is a rare pathological condition. Its multiple clinical features include; partial gigantism of hands and/or feet, pigmented nevi, hemihypertrophy of the body, tumors, skeletal anomalies, growth disorders and visceral anomalies. Hereditary transmission has not been clearly defined. Diagnosis and treatment require the participation of experts from several medical and surgical specialties. CLINICAL CASE: We present a case sent to our hospital for the surgical correction of cranio-facial malformations. Epileptic crises post-operatively indicated the need for neurological and neuro-physiological study. This was done by means of conventional electro-encephalography: brainstem, somato-sensorial and visual auditory evoked potentials, together with imaging techniques which showed the structural and functional asymmetry of the central nervous system at both cerebral and brainstem levels. CONCLUSIONS: Few neuro-physiological studies are included in the literature we reviewed for this paper. Therefore we do not know whether the functional anomalies of the central nervous system which we describe should be considered to be part of the syndrome.
MAJOR MESH DESCRIPTORS: *Brain-pathology; *Proteus-Syndrome-diagnosis
MINOR MESH DESCRIPTORS: Adult-; Brain-abnormalities; Brain-physiopathology; Electroencephalography-; Evoked-Potentials,-Auditory,-Brain-Stem; Evoked-Potentials,-Visual; Magnetic-Resonance-Imaging; Proteus-Syndrome-physiopathology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; pathology; physiopathology; diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98041238
RECORD FEATURES: ABSTRACT (AB)
Record 37 of 66 in MEDLINE (R) 1997 Part B
TITLE: Hemihypertrophy. Concepts and controversies.
AUTHOR: Ballock,-R-T; Wiesner,-G-L; Myers,-M-T; Thompson,-G-H
ADDRESS OF AUTHOR: Case Western Reserve University, Rainbow Babies and Children's Hospital, University Hospitals of Cleveland, Ohio 44106, USA.
SOURCE: J-Bone-Joint-Surg-Am. 1997 Nov; 79(11): 1731-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9355
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
MAJOR MESH DESCRIPTORS: *Arm-pathology; *Leg-pathology
MINOR MESH DESCRIPTORS: Abdominal-Neoplasms-prevention-and-control; Abdominal-Neoplasms-ultrasonography; Beckwith-Wiedemann-Syndrome-diagnosis; Child-; Diagnosis,-Differential; Growth-Disorders-complications; Growth-Disorders-pathology; Hypertrophy-; Kidney-Neoplasms-complications; Mass-Screening; Neoplasms-complications; Neoplasms,-Germ-Cell-and-Embryonal-prevention-and-control; Neoplasms,-Germ-Cell-and-Embryonal-ultrasonography; Nephroblastoma-complications; Neurofibromatoses-diagnosis; Syndrome-
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: prevention-and-control; ultrasonography; pathology; diagnosis; complications
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98044090
Record 38 of 66 in MEDLINE (R) 1997 Part A
TITLE: Tumor de Wilms bilateral.
[Bilateral Wilms tumor]
AUTHOR: Presedo,-A; Martinez-Ibanez,-V; Marques,-A; Sanchez-de-Toledo,-J; Boix-Ochoa,-J
ADDRESS OF AUTHOR: Departamento de Cirugia Pediatrica, Hospital Materno Infantil Vall d'Hebron, Barcelona.
SOURCE: Cir-Pediatr. 1997 Jul; 10(3): 108-11
INTERNATIONAL STANDARD SERIAL NUMBER: 0214-1221
PUBLICATION YEAR: 1997
LANGUAGE: Spanish; Non-English
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: The incidence of bilateral involvement it is generally estimated to be 5% to 10%. It shows association with certain congenital anomalies and it has an increased occurrence of familial cases. The records of 9 children (5 boys, 4 girls) diagnosed at Vall d'Hebron Hospital with bilateral Wilms tumor between 1976-1995 were analyzed. Six patients had synchronous tumors and 3 had metachronous lesions. Genitourinary malformations were present in 4 children and another had hemihypertrophy. Two children were brothers. Eight patients underwent pre-operative radiation therapy and/or chemotherapy. Five patients had nephrectomy on one side (3 of them had metachronous presentation) and partial nephrectomy on the other side. The other children had bilateral partial nephrectomy or tumorectomy. Seven out of the nine patients are alive (78%). The two children who died presented with stage IV tumors and high grade malignant. One boy suffers cardiomyopathy. All survivors have normal renal function. With the proven efficacy of chemotherapy, bilateral renal salvage procedures were demonstrated to be effective in controlling disease without compromising renal function or survival. The innovative approaches developed for the treatment of bilateral Wilms tumor may influence the treatment of unilateral Wilms.
MAJOR MESH DESCRIPTORS: *Kidney-Neoplasms-pathology; *Nephroblastoma-pathology
MINOR MESH DESCRIPTORS: Child-; Child,-Preschool; Infant-; Kidney-Neoplasms-surgery; Neoplasm-Staging; Nephroblastoma-surgery; Retrospective-Studies
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; surgery
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97412291
RECORD FEATURES: ABSTRACT (AB)
Record 39 of 66 in MEDLINE (R) 1997 Part A
TITLE: Sebaceous nevus syndrome: report of two cases.
AUTHOR: Bonioli,-E-V; Bertola,-A; Di-Stefano,-A; Bellini,-C
ADDRESS OF AUTHOR: Istituto di Clinica Pediatrica G. Gaslini, Universita di Genova, Italy.
SOURCE: Pediatr-Neurol. 1997 Jul; 17(1): 77-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Sebaceous nevus (SN) syndrome is a neurocutaneous disorder characterized by a distinctive skin lesion in association with epilepsy and mental retardation. In one group of patients, brain lesions may be consequent to vascular abnormalities ("vascular variant"); another group of SN patients presents ipsilateral hemimegalencephaly, gyral anomalies, and facial hemihypertrophy ("neurologic variant" or "SN with hemimegalencephaly"). In the latter group, facial hemihypertrophy does not appear to be a constant feature and was not present in our 2 SN patients with hemimegalencephaly. Considering that about half of the SN patients with hemimegalencephaly described so far do not have facial asymmetry, we suggest the existence of a separate subgroup of SN patients with hemimegalencephaly and without facial hemihypertrophy. In these patients, the only clinical diagnostic clue is a nevus that is barely visible until puberty.
MAJOR MESH DESCRIPTORS: *Brain-abnormalities; *Facial-Dermatoses-genetics; *Hamartoma-genetics; *Spasms,-Infantile-genetics
MINOR MESH DESCRIPTORS: Brain-pathology; Cerebral-Cortex-abnormalities; Cerebral-Cortex-pathology; Cerebral-Ventricles-abnormalities; Cerebral-Ventricles-pathology; Dominance,-Cerebral-physiology; Infant-; Magnetic-Resonance-Imaging; Syndrome-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; pathology; physiology; genetics
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97452569
RECORD FEATURES: ABSTRACT (AB)
Record 40 of 66 in MEDLINE (R) 1997 Part A
TITLE: Proteus-Syndrom: Ein Fallbericht.
[Proteus syndrome: a case report]
AUTHOR: Reize,-P; Schonthaler,-M; Sell,-S
ADDRESS OF AUTHOR: Orthopadische Universitatsklinik Tubingen.
SOURCE: Z-Orthop-Ihre-Grenzgeb. 1997 Mar-Apr; 135(2): 174-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0044-3220
PUBLICATION YEAR: 1997
LANGUAGE: German; Non-English
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: The Proteus-syndrome is a recently described congenital hamartomatosis consisting of numerous clinical features of great variety. Mainly affected are the musculo-skeletal system, primarily by hemihypertrophy, macrodactyly and exostoses, and the skin and the subcutaneous tissue, primarily by pigmented naevi and subcutaneous tumors. The differential diagnosis includes other malformation syndromes, e. g. Klippel-Trenaunay-Weber syndrome and other hamartomatosis. Surgical intervention and treatment is difficult because of a frequency of complications and recurrences. This article describes clinical manifestations of Proteus syndrome, differential diagnosis and therapeutic strategies.
MAJOR MESH DESCRIPTORS: *Proteus-Syndrome-radiography
MINOR MESH DESCRIPTORS: Child-; Proteus-Syndrome-pathology; Proteus-Syndrome-surgery
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: pathology; radiography; surgery
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97309919
RECORD FEATURES: ABSTRACT (AB)
Record 41 of 66 in MEDLINE (R) 1997 Part A
TITLE: Bilaterally multicentric synchronous Wilms' tumor: successful conservative treatment despite persistence of nephrogenic rests.
AUTHOR: Regalado,-J-J; Rodriguez,-M-M; Toledano,-S
ADDRESS OF AUTHOR: Department of Pathology, Jackson Memorial Medical Center, University of Miami School of Medicine, Florida 33101, USA.
SOURCE: Med-Pediatr-Oncol. 1997 Jun; 28(6): 420-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0098-1532
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report a case of synchronous bilateral Wilms' tumor in a girl with incomplete Beck-with-Wiedemann syndrome and hemihypertrophy. Multiple small tumors were present in both kidneys. The initial diagnostic biopsy showed stage I monophasic blastematous Wilms' tumor of favorable histology, with multiple perilobar nephrogenic rests (nephroblastomatosis). By flow cytometry, tumor was diploid, with an S-phase fraction of 13.9%. Dactinomycin and vincristine were begun as per the National Wilms' Tumor Study IV (18 week course). After 1 month, only a single small lesion was evident, which persisted unchanged. Excisional biopsy 5 months after beginning chemotherapy showed entirely necrotic tumor but apparently unaltered nephrogenic rests. After completing chemotherapy, the child has done well, with normal renal function and no evidence of disease 3 years after diagnosis. Management of stage V Wilms' tumor is tailored to the individual case, being as conservative as possible to spare renal parenchyma. Given the high incidence of coexisting nephrogenic rests in bilateral Wilms' tumor, careful follow-up is required, as these potentially premalignant rests may resist chemotherapy.
MAJOR MESH DESCRIPTORS: *Kidney-Neoplasms-pathology; *Kidney-Neoplasms-therapy; *Neoplasms,-Multiple-Primary-therapy; *Nephroblastoma-pathology; *Nephroblastoma-therapy
MINOR MESH DESCRIPTORS: Antineoplastic-Agents,-Combined-therapeutic-use; Beckwith-Wiedemann-Syndrome-complications; Chemotherapy,-Adjuvant; Child,-Preschool; Kidney-Neoplasms-complications; Neoplasms,-Multiple-Primary-complications; Neoplasms,-Multiple-Primary-pathology; Nephrectomy-methods; Nephroblastoma-complications
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: therapeutic-use; complications; pathology; therapy; methods
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Antineoplastic-Agents,-Combined
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97288408
RECORD FEATURES: ABSTRACT (AB)
Record 42 of 66 in MEDLINE (R) 1997 Part A
TITLE: The Beckwith-Wiedemann syndrome phenotype and the risk of cancer.
AUTHOR: Schneid,-H; Vazquez,-M-P; Vacher,-C; Gourmelen,-M; Cabrol,-S; Le-Bouc,-Y
ADDRESS OF AUTHOR: Laboratoire d'Explorations Fonctionnelles Endocriniennes, Hopital Annand-Trousseau, Paris, France.
SOURCE: Med-Pediatr-Oncol. 1997 Jun; 28(6): 411-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0098-1532
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Beckwith-Wiedemann syndrome (BWS) comprises of a number of childhood abnormalities, often associated with one or more tumors. Thirty-eight patients were investigated to determine clinical and/or biological signs associated with a tumor presence. Our patients exhibited a higher incidence of tumor development (21%) than that previously reported, underlying the care with which such patients should be followed, when particular clinical features are observed: visceromegaly affecting three organs (liver, kidney, spleen), and also family history with sign of BWS such as macroglossia, omphalocele, hemihypertrophy, embryonic tumor), high body weight at birth (> or = +2 standard deviations and diastasis recti.
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-genetics; *Neoplasms-genetics
MINOR MESH DESCRIPTORS: Beckwith-Wiedemann-Syndrome-blood; Child,-Preschool; Infant-; Insulin-Like-Growth-Factor-I-metabolism; Insulin-Like-Growth-Factor-II-metabolism; Neoplasms-blood; Odds-Ratio; Phenotype-; Risk-
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: blood; genetics; metabolism
CAS REGISTRY NUMBER OR EC NUMBER: 67763-96-6; 67763-97-7
NAME OF SUBSTANCE: Insulin-Like-Growth-Factor-I; Insulin-Like-Growth-Factor-II
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97288406
RECORD FEATURES: ABSTRACT (AB)
Record 43 of 66 in MEDLINE (R) 1996
TITLE: Klippel-Trenaunay-Weber syndrome with hemimegalencephaly: report of one case.
AUTHOR: Chen,-P-C; Shu,-W-C
ADDRESS OF AUTHOR: Department of Pediatrics, Taipei Municipal Women and Children's General Hospital, Taiwan, R.O.C.
SOURCE: Zhonghua-Min-Guo-Xiao-Er-Ke-Yi-Xue-Hui-Za-Zhi. 1996 Mar-Apr; 37(2): 138-41
INTERNATIONAL STANDARD SERIAL NUMBER: 0001-6578
PUBLICATION YEAR: 1996
LANGUAGE: English
COUNTRY OF PUBLICATION: TAIWAN
ABSTRACT: A full-term female neonate presented with facial port-wine stain, cutaneous telangiectasia, left facial hemihypertrophy, and left hemimegalencephaly at birth and subsequently developed hypertrophic change of left limb. She fit the diagnostic criteria of Klippel-Trenaunay-Weber syndrome. However, it was an unusual variant of this syndrome because the patient had left facial hemihypertrophy, left hemimegalencephaly and ipsilateral ventriculomegaly. Although patients with hemimegalencephaly are commonly thought to be associated with neurological defects, such as developmental delay, mental retardation and intractable seizure, she had normal neurological development and no seizure was detectable until two years of age.
MAJOR MESH DESCRIPTORS: *Cerebral-Ventricles-abnormalities; *Facial-Asymmetry-diagnosis; *Klippel-Trenaunay-Weber-Syndrome-diagnosis
MINOR MESH DESCRIPTORS: Cerebral-Ventricles-pathology; Child,-Preschool; Dominance,-Cerebral-physiology; Follow-Up-Studies; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Neurologic-Examination
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; pathology; physiology; diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97089507
RECORD FEATURES: ABSTRACT (AB)
Record 44 of 66 in MEDLINE (R) 1996
TITLE: Severe growth retardation following limb lengthening: a case report.
AUTHOR: Price,-C-T; Carantzas,-A-C
ADDRESS OF AUTHOR: Orlando Regional Medical Center, FL 32806, USA.
SOURCE: Iowa-Orthop-J. 1996; 16139-46
PUBLICATION YEAR: 1996
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The first limb lengthening was reported by Codivilla in 1905. Common complications reported with this procedure include pain tract infections, angulation deformities, joint contractures, and residual limb length discrepancies. Growth arrest or severe growth retardation in the lengthened bones has rarely been reported. We report a case of a skeletally immature patient with right sided hemihypertrophy who underwent lengthening of the left lower extremity by the method of DeBastiani using Orthofix external fixators. Postoperatively he developed severe growth retardation in the lengthened limb, as evidenced by the Mosely straight line graph, and recurrence of his limb length discrepancy. The reason for this growth retardation remains unknown; however, we hypothesize that premature closure at one or more of the physes occurred because of increased tension across the growth plates. The practice of over-lengthening a congenitally short limb prior to physeal closure should be questioned because resumption of growth after lengthening may be unpredictable.
MAJOR MESH DESCRIPTORS: *Bone-Lengthening-adverse-effects; *Growth-Disorders-etiology; *Leg-growth-and-development; *Leg-Length-Inequality-surgery
MINOR MESH DESCRIPTORS: Adolescence-; Age-Determination-by-Skeleton; External-Fixators
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: adverse-effects; etiology; growth-and-development; surgery
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97275409
RECORD FEATURES: ABSTRACT (AB)
Record 45 of 66 in MEDLINE (R) 1996
TITLE: Acquired tracheomalacia--a case report.
AUTHOR: Kang,-F-C; Tsai,-Y-C; Jiang,-C-Y; Chen,-H-P; Chang,-C-L
ADDRESS OF AUTHOR: Department of Anesthesiology, National Cheng Kung University, College of Medicine, Tainan, Taiwan, R.O.C.
SOURCE: Acta-Anaesthesiol-Sin. 1996 Dec; 34(4): 239-42
INTERNATIONAL STANDARD SERIAL NUMBER: 0529-5769
PUBLICATION YEAR: 1996
LANGUAGE: English
COUNTRY OF PUBLICATION: TAIWAN
ABSTRACT: Tracheomalacia is a condition characterized by weakness of the tracheal walls and supporting cartilage. It may be congenital, occurring in association with other lesions, such as vascular ring, tracheoesophageal fistula, dyschondroplasia, congenital cysts or tumors, or it may be acquired, most commonly as a result of protracted endotracheal intubation and less often of irradiation, trauma or neoplasm. We present a case of acquired tracheomalacia in a 15-year-old boy, a victim of Proteus syndrome (hemihypertrophy, subcutaneous tumors, and macrodactyly), who had congenital scoliosis with secondary chronic restrictive pulmonary disease, for which he was admitted to our hospital for surgical correction of the spine. Unfortunately, his conditions, particularly of respiratory, worsened after the operation, which called for an emergent tracheostomy. During the procedure, high airway pressure and CO2 retention developed, and an extreme narrowing of the tracheal lumen was revealed by fiberoptic bronchoscopy. Acquired tracheomalacia was diagnosed. The probable mechanisms, diagnostic tests, and treatments of tracheomalacia are hereunder discussed.
MAJOR MESH DESCRIPTORS: *Tracheal-Diseases-etiology; *Tracheostomy-adverse-effects
MINOR MESH DESCRIPTORS: Adolescence-; Tracheal-Diseases-diagnosis; Tracheal-Diseases-therapy
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; etiology; therapy; adverse-effects
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97238228
RECORD FEATURES: ABSTRACT (AB)
Record 46 of 66 in MEDLINE (R) 1996
TITLE: Medullary sponge kidney associated with congenital hemihypertrophy.
AUTHOR: Indridason,-O-S; Thomas,-L; Berkoben,-M
ADDRESS OF AUTHOR: Division of Nephrology, Duke University Medical Center, Durham, NC 27710, USA.
SOURCE: J-Am-Soc-Nephrol. 1996 Aug; 7(8): 1123-30
INTERNATIONAL STANDARD SERIAL NUMBER: 1046-6673
PUBLICATION YEAR: 1996
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Medullary sponge kidney is a developmental disorder characterized by ectatic and cystic malformation of the collecting ducts and tubules. Clinical manifestations include urinary tract infections, renal stones, and hematuria. It can be associated with other developmental disorders. A case of medullary sponge kidney associated with congenital hemihypertrophy, complicated by nephrocalcinosis and nephrolithiasis, is reported here.
MAJOR MESH DESCRIPTORS: *Kidney,-Sponge-complications; *Leg-Length-Inequality-congenital
MINOR MESH DESCRIPTORS: Adult-; Calcium-urine; Hydrogen-Ion-Concentration; Hypertrophy-; Kidney-Calculi-etiology; Kidney,-Sponge-diagnosis; Kidney,-Sponge-embryology; Kidney,-Sponge-epidemiology; Kidney,-Sponge-physiopathology; Leg-abnormalities; Leg-pathology; Nephrocalcinosis-etiology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: urine; etiology; complications; diagnosis; embryology; epidemiology; physiopathology; abnormalities; pathology; congenital
CAS REGISTRY NUMBER OR EC NUMBER: 7440-70-2
NAME OF SUBSTANCE: Calcium
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97019948
RECORD FEATURES: ABSTRACT (AB)
Record 47 of 66 in MEDLINE (R) 1996
TITLE: Hemihypertrophy, hemimegalencephaly, and polydactyly.
AUTHOR: Reardon,-W; Harding,-B; Winter,-R-M; Baraitser,-M
ADDRESS OF AUTHOR: Department of Clinical Genetics, Hospital for Children, London, United Kingdom.
SOURCE: Am-J-Med-Genet. 1996 Dec 11; 66(2): 144-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1996
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We present clinical and neuropathological details of a patient with hemihypertrophy and hemimegalencephaly who may have Proteus syndrome. The observation of polysyndactyly in the case indicates either that polysyndactyly is a rare manifestation in Proteus syndrome, or that a separate condition, mimicking Proteus syndrome and pursuing a similar clinical course, might exist.
MAJOR MESH DESCRIPTORS: *Brain-abnormalities; *Polydactyly-genetics; *Proteus-Syndrome-diagnosis; *Proteus-Syndrome-genetics; *Syndactyly-genetics
MINOR MESH DESCRIPTORS: Diagnosis,-Differential; Infant,-Newborn; Proteus-Syndrome-pathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; genetics; diagnosis; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97117251
RECORD FEATURES: ABSTRACT (AB)
Record 48 of 66 in MEDLINE (R) 1996
TITLE: Lymphangiolipoma of the thoracic spine in a pediatric patient with Proteus syndrome.
AUTHOR: Whitley,-J-M; Flannery,-A-M
ADDRESS OF AUTHOR: Department of Surgery, Medical College of Georgia, Augusta 30912, USA.
SOURCE: Childs-Nerv-Syst. 1996 Apr; 12(4): 224-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0256-7040
PUBLICATION YEAR: 1996
LANGUAGE: English
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Proteus syndrome is a rare hamartomatous disorder involving macrodactyly, hemihypertrophy, and subcutaneous lymphangiomas; fewer than 25 cases have been reported worldwide. We report a case of a thoracic epidural lymphangiolipoma in a 5-year-old boy with Proteus syndrome. Computerized axial tomography (CT) of the thoracic spine revealed a left posterior mediastinal mass that extended into the spinal canal through adjacent neural foramina. No sign of spinal cord compression was observed despite the extensive volume of tumor within the spinal canal. Surgical debulking utilizing a T3-10 laminectomy resulted in gross total resection of the tumor. Microscopic examination of the surgical specimen revealed a lymphangiolipoma. No previous report of spinal cord involvement has been reported in this syndrome. A detailed discussion of the phenotypic features and probable mode of genetic transmission is included.
MAJOR MESH DESCRIPTORS: *Lipoma-complications; *Lymphangioma-complications; *Proteus-Syndrome-complications; *Spinal-Neoplasms-complications
MINOR MESH DESCRIPTORS: Child,-Preschool; Lipoma-pathology; Lipoma-radiography; Lymphangioma-pathology; Lymphangioma-radiography; Proteus-Syndrome-pathology; Spinal-Neoplasms-pathology; Spinal-Neoplasms-radiography; Tomography,-X-Ray-Computed
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; pathology; radiography
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96317055
RECORD FEATURES: ABSTRACT (AB)
Record 49 of 66 in MEDLINE (R) 1996
TITLE: Hemimegalencephaly associated with somatic hemihypertrophy and a malformation of the feet: case report.
AUTHOR: Calzolari,-F; Chirico,-M; Tamisari,-L; Di-Rocco,-C
ADDRESS OF AUTHOR: Department of Neuroradiology, S. Anna Hospital, Ferrara, Italy.
SOURCE: Neuroradiology. 1996 May; 38(4): 367-70
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3940
PUBLICATION YEAR: 1996
LANGUAGE: English
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Hemimegalencephaly (HME) is a rare neuronal migration anomaly, rarely associated with hemihypertrophy or some other somatic malformation; it can coexist with intracranial arteriovenous shunts which cause cardiac failure. We report a rare case associated with hemihypertrophy of the face, trunk and limbs and malformation of the feet. The neuroradiological findings are underlined and the differential diagnoses discussed.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-diagnosis; *Brain-abnormalities; *Dominance,-Cerebral-physiology; *Fetal-Macrosomia-diagnosis; *Foot-Deformities,-Congenital-diagnosis
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-pathology; Abnormalities,-Multiple-surgery; Brain-pathology; Brain-surgery; Cerebral-Cortex-abnormalities; Cerebral-Cortex-pathology; Cerebral-Cortex-surgery; Infant,-Newborn; Neurologic-Examination; Neurons-pathology; Spasms,-Infantile-diagnosis; Spasms,-Infantile-pathology; Spasms,-Infantile-surgery
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; pathology; surgery; abnormalities; physiology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96347192
RECORD FEATURES: ABSTRACT (AB)
Record 50 of 66 in MEDLINE (R) 1996
TITLE: Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors.
AUTHOR: Mannens,-M; Alders,-M; Redeker,-B; Bliek,-J; Steenman,-M; Wiesmeyer,-C; de-Meulemeester,-M; Ryan,-A; Kalikin,-L; Voute,-T; De-Kraker,-J; Hoovers,-J; Slater,-R; Feinberg,-A; Little,-P; Westerveld,-A
ADDRESS OF AUTHOR: Institute of Human Genetics, University of Amsterdam, Academisch Medisch Centrum, The Netherlands.
SOURCE: Med-Pediatr-Oncol. 1996 Nov; 27(5): 490-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0098-1532
PUBLICATION YEAR: 1996
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that occurs with an incidence of 1:13,700 births. There is a striking incidence of childhood tumors found in BWS patients. Various lines of investigation have localized "imprinted" genes involved in BWS and associated childhood tumors to 11p15. High resolution mapping of 8 rare balanced chromosomal BWS rearrangements enabled us to identify three distinct regions on chromosome 11p15 that might harbor genes involved in the above-mentioned disorders. These results suggest genetic heterogeneity that correlates with the clinical heterogeneity seen in the patients studied. Expressed candidate gene sequences from these regions have been cloned and partly sequenced. These transcripts are either disrupted by or are at least within a few kb of these BWS chromosome breakpoints. So far, zinc-finger sequences and one Kruppel-associated box (KRAB) domain were found in independent candidate genes which are compatible with a regulating function of growth promoting genes. The abundance of expression of these genes varies from low abundant in all adult and fetal tissues tested to detectable on Northern blots of adult tissues. In addition to our 11p15 studies we have analyzed additional chromosome regions, in particular 1p. Cytogenetic, loss of heterozygosity (LOH) and comparative genomic hybridization (CGH) studies have identified 1p35 as a region of interest. A positional cloning effort to identify a balanced 1p35 translocation found in a Wilms tumor has led to the isolation of a YAC, crossing this breakpoint.
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-genetics; *Cloning,-Molecular; *Growth-Disorders-genetics; *Neoplasms-genetics
MINOR MESH DESCRIPTORS: Adult-; Base-Sequence; Child-; Chromosome-Mapping; Chromosomes,-Human,-Pair-11-genetics; Gene-Deletion; Gene-Expression-Regulation; Gene-Rearrangement; Genomic-Imprinting-genetics; Growth-genetics; Heterozygote-; Transcription,-Genetic-genetics; Zinc-Fingers-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: genetics
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96424618
RECORD FEATURES: ABSTRACT (AB)
Record 51 of 66 in MEDLINE (R) 1996
TITLE: Klippel-Trenaunay-Weber syndrome with hemimegalencephaly. Report of a case.
AUTHOR: Alpay,-F; Kurekci,-A-E; Gunesli,-S; Gokcay,-E
ADDRESS OF AUTHOR: Department of Pediatrics, Gulhane Military Medical Academy, Ankara.
SOURCE: Turk-J-Pediatr. 1996 Apr-Jun; 38(2): 277-80
INTERNATIONAL STANDARD SERIAL NUMBER: 0041-4301
PUBLICATION YEAR: 1996
LANGUAGE: English
COUNTRY OF PUBLICATION: TURKEY
ABSTRACT: A case of Klippel-Trenaunay-Weber Syndrome (KTWS) in a 2.5-year-old girl with congenital hemihypertrophy, nevus flammeus and liver hemangioma is presented. In addition, this report describes the rare association of hemimegalencephaly with KTWS.
MAJOR MESH DESCRIPTORS: *Brain-abnormalities; *Klippel-Trenaunay-Weber-Syndrome-complications
MINOR MESH DESCRIPTORS: Child,-Preschool; Hypertrophy-complications; Hypertrophy-congenital; Hypertrophy-diagnosis; Klippel-Trenaunay-Weber-Syndrome-congenital; Klippel-Trenaunay-Weber-Syndrome-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; complications; congenital; diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96268089
RECORD FEATURES: ABSTRACT (AB)
Record 52 of 66 in MEDLINE (R) 1995
TITLE: Multiple focal nodular hyperplasia of the liver associated with hemihypertrophy and vascular malformations.
AUTHOR: Haber,-M; Reuben,-A; Burrell,-M; Oliverio,-P; Salem,-R-R; West,-A-B
ADDRESS OF AUTHOR: Department of Pathology, Yale University, New Haven, Connecticut.
SOURCE: Gastroenterology. 1995 Apr; 108(4): 1256-62
INTERNATIONAL STANDARD SERIAL NUMBER: 0016-5085
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A case of multiple focal nodular hyperplasia of the liver occurring in a 22-year-old woman with musculoskeletal hemihypertrophy and anomalous vascular supply to the liver is described. The patient had Klippel-Trenaunay-Weber syndrome and abdominal pain and tender massive hepatomegaly. Visceral angiography showed marked dilatation of the celiac axis and both the main trunk and peripheral branches of the hepatic artery. Large abdominal veins drained from the dome of the liver into the hepatic veins. The vascular anomalies were evident on contrast-enhanced computed tomography and magnetic resonance imaging. Multiple focal nodular hyperplasia was confirmed by laparoscopic liver biopsy. The findings in this patient support the concept that multiple focal nodular hyperplasia characteristically occurs in a syndromic form and is induced by an irregular arterial supply in the liver, with localized hyperfusion that leads to nodular areas of hepatocyte hyperproliferation.
COMMENTS: Comment In: Gastroenterology. 1999 Jul;117(1):284-5
MAJOR MESH DESCRIPTORS: *Arteriovenous-Malformations-complications; *Bone-and-Bones-pathology; *Hepatic-Artery-abnormalities; *Hepatic-Veins-abnormalities; *Liver-pathology; *Muscles-pathology
MINOR MESH DESCRIPTORS: Adult-; Hyperplasia-; Hypertrophy-; Klippel-Trenaunay-Weber-Syndrome-complications; Liver-blood-supply
CHECKTAGS: Case-Report; Female; Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; pathology; abnormalities; blood-supply
CONTRACT OR GRANT NUMBERS: P30DK34989DKNIDDK
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 95212848
RECORD FEATURES: ABSTRACT (AB)
Record 53 of 66 in MEDLINE (R) 1995
TITLE: A constitutional BWS-related t(11;16) chromosome translocation occurring in the same region of chromosome 16 implicated in Wilms' tumors.
AUTHOR: Newsham,-I; Kindler-Rohrborn,-A; Daub,-D; Cavenee,-W
ADDRESS OF AUTHOR: Section of Human Carcinogenesis, Ludwig Institute for Cancer Research, La Jolla, CA 92093-0660.
SOURCE: Genes-Chromosomes-Cancer. 1995 Jan; 12(1): 1-7
INTERNATIONAL STANDARD SERIAL NUMBER: 1045-2257
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder with a varying spectrum of clinical manifestations including macroglossia, omphalocele, hemihypertrophy, and a predisposition to a subset of embryonal tumors, most frequently Wilms' tumor (WT). A variety of cytogenetic, genetic linkage, and molecular mapping data implicate a gene or genes on chromosome band 11p15.5 in BWS and its related tumors. However, some families with BWS do not show linkage to 11p15, and other alterations have been found in Wilms' tumors as well. One such alteration is loss of heterozygosity (LOH) for chromosome arm 16q. Here we have analyzed a balanced t(11;16)(p15;q13) chromosomal translocation associated with the BWS phenotype and mapped the breakpoint positions for both chromosomes 11 and 16 by using somatic cell hybrids and polymorphic markers. The chromosome 11 breakpoint was found to lie distal to the D11S12 locus, but proximal to TH on 11p15.5, a region shown previously to contain other BWS-related chromosomal events. The chromosome 16 breakpoint was distal to D16S290 in 16q13, but proximal to loci D16S265, D16S267, and D16S164 in band 16q21. This area encompasses the region of LOH occurring through mitotic recombination in sporadic WT. This raises interesting possibilities for the genetic and epigenetic involvement of both chromosomal regions (11p15 and 16q13) in the pathogenesis of BWS and Wilms' tumor.
MAJOR MESH DESCRIPTORS: *Beckwith-Wiedemann-Syndrome-genetics; *Chromosomes,-Human,-Pair-16; *Genes,-Wilms-Tumor-genetics; *Kidney-Neoplasms-genetics; *Nephroblastoma-genetics; *Translocation-Genetics
MINOR MESH DESCRIPTORS: Adult-; Chromosome-Deletion; Chromosome-Mapping; Chromosomes,-Human,-Pair-11; DNA,-Neoplasm-analysis; Heterozygote-
CHECKTAGS: Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; analysis
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: DNA,-Neoplasm
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 95194917
RECORD FEATURES: ABSTRACT (AB)
Record 54 of 66 in MEDLINE (R) 1995
TITLE: Hepatoblastoma associated with congenital hemihypertrophy.
AUTHOR: Rattan,-K-N; Sharma,-A; Singh,-Y; Ahlawat,-K; Mathur,-S-K; Marwah,-N
ADDRESS OF AUTHOR: Department of Pediatrics Surgery, Pt. B.D.S. Medical College and Hospital, Rohtak, Haryana.
SOURCE: Indian-Pediatr. 1995 Dec; 32(12): 1308-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0019-6061
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: INDIA
MAJOR MESH DESCRIPTORS: *Arm-abnormalities; *Hepatoblastoma-complications; *Leg-abnormalities; *Liver-Neoplasms-complications
MINOR MESH DESCRIPTORS: Hepatoblastoma-pathology; Hypertrophy-congenital; Infant-; Liver-Neoplasms-pathology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; complications; pathology; congenital
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96368882
Record 55 of 66 in MEDLINE (R) 1995
TITLE: Hemihypertrophy with a liver cyst: a case report.
AUTHOR: Kyi,-A; Mya,-G-H; Saing,-H
ADDRESS OF AUTHOR: Department of Paediatric Surgery, Rangoon Children's Hospital, Burma.
SOURCE: Eur-J-Pediatr-Surg. 1995 Dec; 5(6): 363-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0939-7248
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: An 8-month-old girl with a right-sided hemihypertrophy was found to have a large abdominal mass. At exploration, the mass, arising from the antero-inferior edge of the right lobe of the liver, was pedunculated and measured 17 cm x 12.5 cm x 12.5 cm. This was excised and histology confirmed it to be a benign single cyst of the liver.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-surgery; *Cysts-congenital; *Liver-Diseases-congenital
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-pathology; Cysts-pathology; Cysts-surgery; Diagnosis,-Differential; Hypertrophy-; Infant-; Liver-pathology; Liver-Diseases-pathology; Liver-Diseases-surgery
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; surgery; congenital
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96369223
RECORD FEATURES: ABSTRACT (AB)
Record 56 of 66 in MEDLINE (R) 1995
TITLE: Gingival fibromatosis and Klippel-Trenaunay-Weber syndrome. Case report.
AUTHOR: Hallett,-K-B; Bankier,-A; Chow,-C-W; Bateman,-J; Hall,-R-K
ADDRESS OF AUTHOR: Department of Dentistry, Royal Children's Hospital, Melbourne, Australia.
SOURCE: Oral-Surg-Oral-Med-Oral-Pathol-Oral-Radiol-Endod. 1995 May; 79(5): 578-82
INTERNATIONAL STANDARD SERIAL NUMBER: 1079-2104
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A case of a young male with the Klippel-Trenaunay-Weber syndrome is described. Typical features of hemihypertrophy, hemangiomata, macrodactyly, and macrocephaly were present. The most striking oral feature was generalized severe gingival hypertrophy confirmed histologically, ultrastructurally, and by collagen analysis. In the absence of other known systemic causes of gingival enlargement, a diagnosis of familial gingival fibromatosis in association with Klippel-Trenaunay-Weber-syndrome is concluded. The combination of gingival fibromatosis and Klippel-Trenaunay-Weber syndrome has not been reported to our knowledge, it is uncertain whether this occurrence is significant or coincidental.
MAJOR MESH DESCRIPTORS: *Fibromatosis,-Gingival-etiology; *Klippel-Trenaunay-Weber-Syndrome-complications
MINOR MESH DESCRIPTORS: Child-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: etiology; complications
SUBSET: Dental; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 95323597
RECORD FEATURES: ABSTRACT (AB)
Record 57 of 66 in MEDLINE (R) 1995
TITLE: Screening for Wilms tumor in high-risk individuals.
AUTHOR: Clericuzio,-C-L; Johnson,-C
ADDRESS OF AUTHOR: Division of Genetics/Dysmorphology, University of New Mexico School of Medicine, Albuquerque, USA.
SOURCE: Hematol-Oncol-Clin-North-Am. 1995 Dec; 9(6): 1253-65
INTERNATIONAL STANDARD SERIAL NUMBER: 0889-8588
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Recognition of the association between a variety of genetic syndromes and Wilms tumor has influenced physicians to develop tumor surveillance protocols based on empiric risk estimates. In recent years, clinical evaluation of high-risk individuals has been greatly refined and sensible screening protocols have been proposed. A continued effort to clinically characterize the Wilms tumor syndromes continues to be important, and a patient registry is currently being generated by one of the authors (CC). This registry will prospectively assess the occurrence of Wilms tumor in patients with high-risk phenotypes. All interested clinicians are encouraged to enroll their patients. As molecular genetic technologies refine our knowledge of factors leading to Wilms tumor, improved mechanisms of surveillance in high-risk individuals will be developed. Recent characterization of molecular mechanisms responsible for cases of BWS, isolated hemihypertrophy, DDS, familial Wilms tumor, and aniridia has already influenced the clinical management of high-risk patients and has become an important adjunct to clinical assessment in these patients. The involvement of clinical genetics in the coordination of clinical assessment, genetic testing, and tumor surveillance will provide better patient care and will promote the development of a multidisciplinary approach to Wilms tumor risk assessment. This collaboration between clinical genetics, molecular biology, oncology, and pediatrics should allow for a more precise understanding of tumor risks and will accelerate the understanding of factors involved in the genesis and progression of Wilms tumor.
MAJOR MESH DESCRIPTORS: *Kidney-Neoplasms-diagnosis; *Mass-Screening-methods; *Nephroblastoma-diagnosis
MINOR MESH DESCRIPTORS: Kidney-Neoplasms-genetics; Nephroblastoma-genetics; Phenotype-; Risk-Factors; Syndrome-
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: diagnosis; genetics; methods
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96159542
RECORD FEATURES: ABSTRACT (AB)
Record 58 of 66 in MEDLINE (R) 1995
TITLE: Nevus depigmentosus associated with hemihypertrophy of the limbs.
AUTHOR: Dawn,-G; Dhar,-S; Handa,-S; Kanwar,-A-J
SOURCE: Pediatr-Dermatol. 1995 Sep; 12(3): 286-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0736-8046
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
MAJOR MESH DESCRIPTORS: *Extremities-abnormalities; *Nevus-congenital; *Skin-Neoplasms-congenital
MINOR MESH DESCRIPTORS: Ear,-External-abnormalities; Hypertrophy-etiology; Infant-; Nevus-complications; Skin-Neoplasms-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Letter
SUBHEADINGS: abnormalities; etiology; complications; congenital
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96100613
Record 59 of 66 in MEDLINE (R) 1995
TITLE: Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?
AUTHOR: Sabry,-M-A; al-Saleh,-Q; al-Saw'an,-R; al-Awadi,-S-A; Farag,-T-I
ADDRESS OF AUTHOR: Kuwait Medical Genetics Centre, Sulibikhat.
SOURCE: J-Med-Genet. 1995 Jul; 32(7): 555-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-embryology; *Abnormalities,-Multiple-genetics; *Arm-abnormalities; *Face-abnormalities; *Fetal-Development-genetics; *Heart-Defects,-Congenital-genetics; *Hip-Dislocation,-Congenital; *Scoliosis-congenital
MINOR MESH DESCRIPTORS: Infant,-Newborn; Karyotyping-; Scoliosis-genetics
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: embryology; genetics; abnormalities; congenital
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96057513
RECORD FEATURES: ABSTRACT (AB)
Record 60 of 66 in MEDLINE (R) 1995
TITLE: Regional Proteus syndrome: report of an autopsy case.
AUTHOR: Horie,-Y; Fujita,-H; Mano,-S; Kuwajima,-M; Ogawa,-K
ADDRESS OF AUTHOR: Department of Clinical Laboratory Medicine, Faculty of Medicine, Tottori University, Yonago, Japan.
SOURCE: Pathol-Int. 1995 Jul; 45(7): 530-5
INTERNATIONAL STANDARD SERIAL NUMBER: 1320-5463
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: AUSTRALIA
ABSTRACT: An uncommon autopsy case involving Proteus syndrome with multiple hamartomatous lesions in a 52 year old woman is reported. At birth, hemihypertrophy was noted on the right side of the face. Leiomyoma of the urinary bladder was extirpated at 37 years of age. She died of sepsis due to a brain abscess. At autopsy, diffuse asymmetrical lipomatosis was noted on the right side of the face, scalp, lip, oral mucosa, tongue and on the left side of the cerebellar peduncle. Multiple meningiomas, cavernous hemangiomas and osseous hypertrophy overlapped in the intracranial regions. The present case is considered as a regional type of Proteus syndrome displaying a somatic mosaicism.
MAJOR MESH DESCRIPTORS: *Proteus-Syndrome-pathology
MINOR MESH DESCRIPTORS: Brain-Neoplasms-pathology; Cerebellum-pathology; Diagnosis,-Differential; Hemangioma-pathology; Lipomatosis-pathology; Meningioma-pathology; Middle-Age; Skull-pathology; Tomography,-X-Ray-Computed; Tongue-pathology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 96035557
RECORD FEATURES: ABSTRACT (AB)
Record 61 of 66 in MEDLINE (R) 1995
TITLE: Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome.
AUTHOR: Dodge,-N-N; Dobyns,-W-B
ADDRESS OF AUTHOR: Department of Pediatrics, Indiana University School of Medicine, Indianapolis, USA.
SOURCE: Am-J-Med-Genet. 1995 Mar 27; 56(2): 147-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The sebaceous nevus syndrome is sometimes associated with hemimegalencephaly and a group of related abnormalities including ipsilateral gyral malformation, mental retardation, seizures, especially infantile spasms, and facial hemihypertrophy. This combination has been described as the "neurological variant of epidermal nevus syndrome." Other brain malformations have been reported only rarely. We report on a child with a subtle sebaceous nevus associated with hemimegalencephaly who also had agenesis of the corpus callosum and Dandy-Walker malformation.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-diagnosis; *Corpus-Callosum-abnormalities; *Dandy-Walker-Syndrome-diagnosis; *Facial-Neoplasms-diagnosis; *Hamartoma-diagnosis; *Nevus-diagnosis; *Sebaceous-Glands-pathology
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-genetics; Brain-abnormalities; Dandy-Walker-Syndrome-genetics; Infant,-Newborn; Magnetic-Resonance-Imaging; Syndrome-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; genetics; abnormalities; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 95351362
RECORD FEATURES: ABSTRACT (AB)
Record 62 of 66 in MEDLINE (R) 1995
TITLE: Perspectives on craniofacial asymmetry. IV. Hemi-asymmetries.
AUTHOR: Cohen,-M-M
ADDRESS OF AUTHOR: Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
SOURCE: Int-J-Oral-Maxillofac-Surg. 1995 Apr; 24(2): 134-41
INTERNATIONAL STANDARD SERIAL NUMBER: 0901-5027
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: Hemi-asymmetries discussed here include: 1) hemihyperplasia which may affect either one tissue such as bone with secondary regional consequences or multiple tissues on a primary basis such as "hemihypertrophy"; 2) hemihypoplasia which may also affect one tissue such as bone with secondary regional consequences or multiple tissues on a primary basis such as in hemifacial microsomia; 3) hemiatrophy, the quintessential craniofacial disorder being Romberg syndrome; and 4) miscellaneous conditions such as Bencze syndrome and hemimaxillofacial dysplasia.
MAJOR MESH DESCRIPTORS: *Facial-Asymmetry-pathology
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-pathology; Facial-Hemiatrophy-pathology; Hyperplasia-; Hypertrophy-
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: pathology
SUBSET: Dental; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 95332761
RECORD FEATURES: ABSTRACT (AB)
Record 63 of 66 in MEDLINE (R) 1995
TITLE: Proteus syndrome with renal involvement.
AUTHOR: Sato,-T; Ota,-M; Miyazaki,-S
ADDRESS OF AUTHOR: Department of Pediatrics, Saga Medical School, Japan.
SOURCE: Acta-Paediatr-Jpn. 1995 Feb; 37(1): 81-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0374-5600
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: AUSTRALIA
ABSTRACT: We report on a case of an 11 year old girl with Proteus syndrome involving both kidneys morphologically and functionally. The patient had hemihypertrophy, scoliosis, overgrowth of lower extremities, partial macrodactyly, subcutaneous lipoma, and pigmented nevi compatible with the Proteus syndrome. She also had overgrowth of the right kidney with mildly impaired function and a small left kidney with severe dysfunction. Morphological involvement of visceral organs has previously been described; however, deteriorating renal function has not previously been reported in this syndrome.
MAJOR MESH DESCRIPTORS: *Kidney-abnormalities; *Kidney-Diseases-etiology; *Proteus-Syndrome-complications
MINOR MESH DESCRIPTORS: Child-; Disease-Progression; Foot-Deformities,-Congenital; Kidney-Diseases-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; diagnosis; etiology; complications
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 95274393
RECORD FEATURES: ABSTRACT (AB)
Record 64 of 66 in MEDLINE (R) 1995
TITLE: Dysplasies hamartomateuses avec hemihypertrophie. Deux observations dont un syndrome Protee.
[Hamartomatous dysplasias with hemihypertrophy. 2 cases including one with Proteus syndrome]
AUTHOR: Delaporte,-E; Wendehenne,-R; Descamps,-S; Bitbol-Duneton,-V; Hatron,-P-Y; Piette,-F; Bergoend,-H
ADDRESS OF AUTHOR: Service de dermatologie A, hopital Claude-Huriez, CHRU, Lille, France.
SOURCE: Arch-Pediatr. 1995 Jan; 2(1): 52-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0929-693X
PUBLICATION YEAR: 1995
LANGUAGE: French; Non-English
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: BACKGROUND--Hamartomatous dysplasias with hemihypertrophy are a part of several congenital diseases, sometimes difficult to classify when their symptomatology is relatively poor. CASE REPORTS--Case 1. A girl, 11 year-old, suffered from gigantism of the feet, left hemihypertrophy of the limbs, scoliosis and kyphosis. X-rays showed frontal hyperostose, bony and soft tissues overgrowth involving the left limbs and pelvis with hip dislocation and coxa valga. The vertebrae were hypertrophic and dysplastic. No tumor could be found. Case 2. A girl, 18 year-old, suffered from left hemihypertrophy of limbs and face associated with homolateral cutaneous hemangioma. X-rays showed enlargement of bone and soft tissue. No tumor or venous abnormalities were observed. CONCLUSION--A diagnosis of Proteus syndrome was made in the first patient while the second patient was considered to have Klippel-Trenaunay syndrome even though hemangiomatous involvement has been seen in Proteus syndrome.
MAJOR MESH DESCRIPTORS: *Hamartoma-Syndrome,-Multiple-complications; *Proteus-Syndrome-diagnosis
MINOR MESH DESCRIPTORS: Adolescence-; Child-; Extremities-pathology; Hamartoma-Syndrome,-Multiple-diagnosis; Hypertrophy-; Klippel-Trenaunay-Weber-Syndrome-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; complications; diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 95253376
RECORD FEATURES: ABSTRACT (AB)
Record 65 of 66 in MEDLINE (R) 1995
TITLE: Hemimegalencephaly, hemihypertrophy and vascular lesions.
AUTHOR: Cristaldi,-A; Vigevano,-F; Antoniazzi,-G; di-Capua,-M; Andreuzzi,-A; Morselli,-G; Iorio,-F; Fariello,-G; Trasimeni,-G; Gualdi,-G-F; et-al.
ADDRESS OF AUTHOR: Paediatric Division, S. Pertini Hospital, Roma, Italy.
SOURCE: Eur-J-Pediatr. 1995 Feb; 154(2): 134-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6199
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We report on two children with hemihypertrophy and ipsilateral hemimegalencephaly. Vascular lesions in one were consistent with a diagnosis of the Klippel-Trenaunay-Weber Syndrome. MRI performed in the first days of life and at 1 month of age revealed the presence of the neuronal anomaly. CONCLUSION: The occurrence of hemimegalencephaly in our patients indicates that hemihypertrophy and vascular dysplasia are pathogenetically related phenomena of a continuous spectrum in which this brain disorder may appear.
MAJOR MESH DESCRIPTORS: *Brain-abnormalities; *Klippel-Trenaunay-Weber-Syndrome-diagnosis
MINOR MESH DESCRIPTORS: Blood-Vessels-abnormalities; Hypertrophy-; Infant,-Newborn
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 95237236
RECORD FEATURES: ABSTRACT (AB)
Record 66 of 66 in MEDLINE (R) 1995
TITLE: Screening for Wilms' tumour in patients with aniridia, Beckwith syndrome, or hemihypertrophy.
AUTHOR: Craft,-A-W; Parker,-L; Stiller,-C; Cole,-M
ADDRESS OF AUTHOR: Department of Child Health, University of Newcastle upon Tyne, Medical School, United Kingdom.
SOURCE: Med-Pediatr-Oncol. 1995 Apr; 24(4): 231-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0098-1532
PUBLICATION YEAR: 1995
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The role of screening for early detection of Wilms' tumour (WT) in patients with aniridia (A), Beckwith-Weidemann syndrome (BWS) and hemihypertrophy (HH) has been explored. Of the 1,622 Wilms' tumour patients registered with the National Childhood Cancer Registry from 1971 to 1991, 41 were recorded as having A, BWS or HH. Twenty-eight of these had their anomaly diagnosed before the WT and 13 had screening procedures carried out, mainly abdominal ultrasound. In 8 patients the screening procedure detected the WT. There was no sig