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

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


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Diagnosis, Differential
  • Ectodermal Dysplasia / complications*
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / pathology*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Limb Deformities, Congenital / complications*
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / pathology*
  • Phenotype