title: Autosomal recessive type of Adams-Oliver syndrome: prenatal diagnosis.
abstract: We report on three pregnancies complicated by Adams-Oliver syndrome in a consanguineous Turkish couple. Two cases were correctly diagnosed prenatally at 22+3 and 13+0 weeks gestation following the first case of Adams-Oliver syndrome in which severe anomalies of the extremities were observed at 26+5 weeks' gestation. In this first case, the diagnosis of Adams-Oliver syndrome was made following termination of pregnancy at 27+2 weeks' gestation. In all three cases, autopsy was performed. All fetuses showed anomalies of the extremities, aplasia cutis and symmetric defects of the skull, with bone being replaced by collagenous tissue. Although there have been numerous cases of the postnatal diagnosis of Adams-Oliver syndrome following termination of pregnancy, this is the first description of the prenatal diagnosis of this disorder.
authors.affiliation: Department of Obstetrics and Gynaecology, Klinikum Benjamin Franklin, Free University of Berlin, Berlin, Germany. bedaktari@t-online.de
authors.forename: R
authors.initials: R
authors.lastname: Becker
authors.forename: J
authors.initials: J
authors.lastname: Kunze
authors.forename: D
authors.initials: D
authors.lastname: Horn
authors.forename: A
authors.initials: A
authors.lastname: Gasiorek-Wiens
authors.forename: M
authors.initials: M
authors.lastname: Entezami
authors.forename: R
authors.initials: R
authors.lastname: Rossi
authors.forename: M
authors.initials: M
authors.lastname: Guschmann
authors.forename: N
authors.initials: N
authors.lastname: Sarioglu
mesh_terms: D000028:Abortion, Induced; D001344:Autopsy; D025063:Chromosome Disorders / Q000000981:diagnostic imaging* / Q000235:genetics; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D012535:Scalp / Q000002:abnormalities*; D013577:Syndrome; D016216:Ultrasonography, Prenatal / Q000379:methods*