title: The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.
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.
authors.affiliation: Guy's and St Thomas' NHS Hospital Trust/Kings College London, NIHR Biomedical Research Centre, UK. richard.trembath@kcl.ac.uk
authors.forename: Katie M G
authors.initials: KM
authors.lastname: Snape
authors.forename: Deborah
authors.initials: D
authors.lastname: Ruddy
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Margo
authors.initials: M
authors.lastname: Whiteford
authors.forename: Diana
authors.initials: D
authors.lastname: Johnson
authors.forename: Wayne
authors.initials: W
authors.lastname: Lam
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000175:diagnosis / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000175:diagnosis / Q000473:pathology*; D010641:Phenotype