Congenital facial neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).
Four patients with clinical features of Goldenhar-Gorlin syndrome who showed facial paralysis on clinical examination are presented. The fourth case died following surgery for cleft lip. Autopsy revealed hypoplasia of the right facial nerve in its intracranial segment, with small right facial nucleus in the brain stem. Nosological aspects of the Goldenhar-Gorlin syndrome are discussed. Peripheral facial paralysis, as a part of this syndrome, is reviewed in the light of clinical and pathological findings and in its relationship to cardiac anomalies. It is suggested that Goldenhar-Gorlin syndrome is a part of a so-called cardiofacial syndrome.
D000015:Abnormalities, Multiple; D000328:Adult; D001933:Brain Stem / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications; D005154:Facial Nerve / Q000473:pathology; D005158:Facial Paralysis / Q000151:congenital* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000473:pathology; D013577:Syndrome