Phocomelia, oligodactyly, and acrania: The Schinzel‐Phocomelia syndrome

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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].