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].