title: Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.
abstract: We describe a son of consanguineous parents with congenital scalp defects, transverse limb abnormalities, hypoplasia of the corpus callosum and bilateral falciform retinal folds. Aplasia cutis congenita with transverse limb defects are features of Adams-Oliver syndrome, which is usually inherited as an autosomal dominant condition. The association of bilateral retinal folds and brain abnormalities with scalp defects and terminal limb defects has only once been previously described. It is possible that these cases represent a severe variant of Adams-Oliver syndrome. We, however, suggest that they may characterize a new, distinct, autosomal recessive syndrome, involving vascular disruption.
authors.affiliation: North West Thames Regional Genetics Service Department of Paediatrics, North West London Hospitals NHS Trust, Middlesex, Harrow, UK.
authors.forename: Joanna
authors.initials: J
authors.lastname: Prothero
authors.forename: Richard
authors.initials: R
authors.lastname: Nicholl
authors.forename: Judith
authors.initials: J
authors.lastname: Wilson
authors.forename: Emma L
authors.initials: EL
authors.lastname: Wakeling
mesh_terms: D000328:Adult; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D008297:Male; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome; D014652:Vascular Diseases / Q000235:genetics / Q000473:pathology*