title: Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?
abstract: Aplasia cutis congenita (ACC) may occur in isolation or with other congenital malformations. Peripheral limb anomalies and ACC are major elements of the Adams-Oliver syndrome, which is usually inherited as an autosomal dominant disorder. We report on a sister and brother with ACC and brain, eyes, and transverse limb anomalies. The phalanges of the hands and feet were either short or absent. The girl also had absence of right patella, was severely mentally retarded and blind with retinal nonattachment. The boy had a falciform fold in the left eye. He died at age one week and autopsy showed partial agenesis of corpus callosum. The findings in the sibs may represent a severe variant of the Adams-Oliver syndrome, or a previously unrecognized syndrome involving vascular disruption.
authors.affiliation: Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.
authors.forename: K H
authors.initials: KH
authors.lastname: Orstavik
authors.forename: P
authors.initials: P
authors.lastname: Strömme
authors.forename: S
authors.initials: S
authors.lastname: Spetalen
authors.forename: T
authors.initials: T
authors.lastname: Flage
authors.forename: J
authors.initials: J
authors.lastname: Westvik
authors.forename: P
authors.initials: P
authors.lastname: Vesterhus
authors.forename: O
authors.initials: O
authors.lastname: Skjeldal
mesh_terms: D001921:Brain / Q000002:abnormalities*; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005190:Family; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D013577:Syndrome