The Spectra of Clinical Phenotypes in Aplasia Cutis Congenita and Terminal Transverse Limb Defects

Katie M. G. Snape, Deborah Ruddy, Martin Zenker, Wim Wuyts, Margo Whiteford, Diana Johnson, Wayne Lam, Richard C. Trembath

Research output: Contribution to journalLiterature reviewpeer-review

81 Citations (Scopus)

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. (C) 2009 Wiley-Liss, Inc.
Original languageEnglish
Pages (from-to)1860 - 1881
Number of pages22
JournalAmerican Journal of Medical Genetics. Part A
Volume149A
Issue number8
DOIs
Publication statusPublished - Aug 2009

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