Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome). A clinicopathologic study and review of the literature.
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.
D000010:Abducens Nerve / Q000473:pathology; D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001933:Brain Stem / Q000473:pathology; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000150:complications* / Q000473:pathology; D005123:Eye / Q000473:pathology; D005260:Female; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000150:complications; D009886:Ophthalmoplegia / Q000151:congenital* / Q000503:physiopathology; D009915:Orbit / Q000473:pathology; D013131:Spine / Q000002:abnormalities; D014321:Trochlear Nerve / Q000473:pathology