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[Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development].
Tidsskr Nor Laegeforen. 1998 Apr 20; 118(10):1556-8.TN

Abstract

Simpson-Golabi-Behmel's syndrome is characterized by pre- and postnatal overgrowth, coarse face, visceromegali, congenital anomalies such as heart defects, diaphragmatic hernia and gastrointestinal malformations. Etiology is X-linked inheritance, the causative gene (GPC3) has recently been discovered. Female carriers may have mild symptoms. We report on an eight year old boy with characteristic anomalies and moderately retarded psychomotor development. Differentiating Simpson-Golabi-Behmel's syndrome and other overgrowth syndromes, such as Beckwith-Wiedemann's and Sotos' syndrome can be difficult. Clinical overlap and differences between these three conditions are discussed. The diagnosis of Simpson-Golabi-Behmel's syndrome is important because of increased risk for cardiac arrhytmias and for development of embryonal tumors such as neuroblastoma and Wilms' tumor in early childhood.

Authors+Show Affiliations

Weidle B
Barneklinikken Regionsykehuset i Trondheim.
Orstavik KH
No affiliation info available

MeSH

Abnormalities, MultipleChildDiagnosis, DifferentialEar, ExternalFaceFemaleGrowth DisordersHumansHypertelorismMaleMouth AbnormalitiesNeoplasms, Germ Cell and EmbryonalPsychomotor PerformanceRisk FactorsSyndromeTooth Abnormalities

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

nor

PubMed ID

9615582

Citation

Weidle, B, and K H. Orstavik. "[Simpson-Golabi-Behmel Syndrome. a New Overgrowth Syndrome With Increased Risk of Tumor Development]." Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, vol. 118, no. 10, 1998, pp. 1556-8.
Weidle B, Orstavik KH. [Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development]. Tidsskr Nor Laegeforen. 1998;118(10):1556-8.
Weidle, B., & Orstavik, K. H. (1998). [Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development]. Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, 118(10), 1556-8.
Weidle B, Orstavik KH. [Simpson-Golabi-Behmel Syndrome. a New Overgrowth Syndrome With Increased Risk of Tumor Development]. Tidsskr Nor Laegeforen. 1998 Apr 20;118(10):1556-8. PubMed PMID: 9615582.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development]. AU - Weidle,B, AU - Orstavik,K H, PY - 1998/6/6/pubmed PY - 1998/6/6/medline PY - 1998/6/6/entrez SP - 1556 EP - 8 JF - Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke JO - Tidsskr Nor Laegeforen VL - 118 IS - 10 N2 - Simpson-Golabi-Behmel's syndrome is characterized by pre- and postnatal overgrowth, coarse face, visceromegali, congenital anomalies such as heart defects, diaphragmatic hernia and gastrointestinal malformations. Etiology is X-linked inheritance, the causative gene (GPC3) has recently been discovered. Female carriers may have mild symptoms. We report on an eight year old boy with characteristic anomalies and moderately retarded psychomotor development. Differentiating Simpson-Golabi-Behmel's syndrome and other overgrowth syndromes, such as Beckwith-Wiedemann's and Sotos' syndrome can be difficult. Clinical overlap and differences between these three conditions are discussed. The diagnosis of Simpson-Golabi-Behmel's syndrome is important because of increased risk for cardiac arrhytmias and for development of embryonal tumors such as neuroblastoma and Wilms' tumor in early childhood. SN - 0029-2001 UR - https://www.unboundmedicine.com/medline/citation/9615582/[Simpson_Golabi_Behmel_syndrome__A_new_overgrowth_syndrome_with_increased_risk_of_tumor_development]_ L2 - http://www.diseaseinfosearch.org/result/6610 DB - PRIME DP - Unbound Medicine ER -