title: Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome.
abstract: We report on a girl born with phocomelia of both lower limbs, with 3-toed feet and partial sacral agenesis. She had normal growth of the upper limbs and trunk, and normal intelligence. Ultrasound study performed during the subsequent pregnancy documented a large skull defect with an intact brain. Fetal autopsy following the termination of that pregnancy was not done. We think this is a further report of the phocomelia syndrome with additional anomalies as reported by Schinzel [Hum Genet 84:539-541, 1990].
authors.affiliation: Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: H J
authors.initials: HJ
authors.lastname: Stalker
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: D
authors.initials: D
authors.lastname: Delneste
authors.forename: E M
authors.initials: EM
authors.lastname: Azouz
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D004480:Ectromelia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal