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Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome)

A clinicopathologic study and review of the literature

From Departments of Neurology, Pathology, and Ophthalmology and Center for Craniofacial Anomalies, Institute for Plastic and Reconstructive Surgery, New York University-Bellevue Hospital Medical Center, 550 First Avenue, New York.

Two patients with Goldenhar-Gorlin syndrome showed paralysis of one or more extraocular eye movements on neurologic examination. At autopsy, a third patient showed unilateral agenesis of trochlear and abducens nerves and corresponding brain stem nuclei. Congenital ophthalmoplegia is not infrequent in Goldenhar-Gorlin syndrome and may be due to hypoplasia or agenesis, or both, of extraocular muscles, extraocular nerves, and brain stem nuclei.

Requests for reprints should be addressed to Dr. Aleksic, Bellevue Hospital, New York, NY 10016.

This study was supported in part by the grant for study of craniofacial anomalies from National Institutes of Health No. DEO-3568-01A2.

Received for publication August 15, 1975.