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Am J Med Genet A. 2009 Aug;149A(8):1860-81. doi: 10.1002/ajmg.a.32708.

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

Author information

1
Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, UK. richard.trembath@kcl.ac.uk

Abstract

The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams-Oliver syndrome (AOS). The molecular basis of this disorder remains unknown, although the common occurrence of cardiac and vascular anomalies suggests a primary defect of vasculogenesis. Through the description of three previously unreported affected individuals, ascertained through the Adams-Oliver Syndrome European Consortium, we illustrate the phenotypic variability characteristically observed within extended families with AOS. Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders.

PMID:
19610107
DOI:
10.1002/ajmg.a.32708
[Indexed for MEDLINE]

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