Document Detail

Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?
MedLine Citation:
PMID:  12687668     Owner:  NLM     Status:  MEDLINE    
Brachmann-de Lange syndrome (BDLS, OMIM 122470) is a rare malformation syndrome characterized by mental retardation, short stature, limb abnormalities, and a distinctive craniofacial appearance. There is wide clinical variability and mildly affected patients are common. The genetic basis of BDLS and the reasons for its phenotypical variability are still unknown. We report on a patient with mild BDLS and the unusual findings of asymmetric growth of one body half and irregularly shaped pigmentary anomalies of the skin. These two traits have not been previously described in BDLS but have been associated with phenomena of genetic mosaicism in other conditions. We suggest that this patient's phenotype could be the result of mosaicism for a mutation or submicroscopic deletion affecting one or several genes responsible for BDLS.
Andreas Zankl; Antonio Rampa; Albert Schinzel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  118A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 May 
Date Detail:
Created Date:  2003-04-10     Completed Date:  2003-11-28     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  358-61     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Institute of Medical Genetics, University of Zurich, Switzerland.
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MeSH Terms
Child, Preschool
De Lange Syndrome / pathology*
Facial Asymmetry / pathology*
Mosaicism / pathology
Pigmentation Disorders / pathology*

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