title: The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.
abstract: We report on a girl with congenital scalp and acral reduction limb defects, consistent with the diagnosis of Adams-Oliver syndrome. The presence of constriction rings makes the limb anomalies in this case similar to those seen in the amniotic band disruption sequence. Vascular disruption--with or without secondary amniotic rupture--may be responsible for the observed anomalies. Therefore we believe that the present observation adds further evidence for the hypothesis that the Adams-Oliver syndrome is a vascular disruption sequence.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Keymolen
authors.forename: L
authors.initials: L
authors.lastname: De Smet
authors.forename: P
authors.initials: P
authors.lastname: Bracke
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D003251:Constriction, Pathologic / Q000235:genetics; D003560:Cysts / Q000235:genetics; D005145:Face / Q000002:abnormalities / Q000098:blood supply; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000098:blood supply; D005532:Foot Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D005799:Genes, Dominant / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D012535:Scalp / Q000002:abnormalities / Q000098:blood supply; D013577:Syndrome; D014034:Toes / Q000002:abnormalities / Q000098:blood supply