Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2003-4-10
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
118A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
358-61
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?
pubmed:affiliation
Institute of Medical Genetics, University of Zurich, Switzerland. andreas.zankl@hospvd.ch
pubmed:publicationType
Journal Article, Case Reports