Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome.
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].
Chitayat
D
D
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Stalker
H J
HJ
Vekemans
M
M
Delneste
D
D
Azouz
E M
EM
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