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The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects
Author(s) -
Snape Katie M.G.,
Ruddy Deborah,
Zenker Martin,
Wuyts Wim,
Whiteford Margo,
Johnson Diana,
Lam Wayne,
Trembath Richard C.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32708
Subject(s) - aplasia cutis congenita , phenotype , broad spectrum , medicine , clinical phenotype , genetic heterogeneity , anatomy , genetics , biology , scalp , chemistry , gene , combinatorial chemistry
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. © 2009 Wiley‐Liss, Inc.