Congenital trigeminal neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).
A 2 1/2 year old child with clinical features of Goldenhar-Gorlin syndrome showed diminished pinprick sensation over the right half of the face. After surgery for the cleft lip, the child died. Neuropathological investigations showed agenesis of the right trigeminal nerve and hypoplasia of the right trigeminal brain-stem nuclei. Nosological aspects of the Goldenhar-Gorlin syndrome and previously reported cases of congenital trigeminal anaesthesia in this disorder are discussed. It is suggested that the hypoplasia of the trigeminal nerve is responsible for the diminished facial sensation seen in some patients with this craniofacial syndrome.
D000015:Abnormalities, Multiple / Q000150:complications; D001933:Brain Stem / Q000473:pathology; D002675:Child, Preschool; D002971:Cleft Lip / Q000601:surgery; D003884:Dermoid Cyst / Q000150:complications; D004431:Ear, External / Q000002:abnormalities; D005124:Eye Abnormalities; D005134:Eye Neoplasms / Q000150:complications; D005260:Female; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000150:complications; D000699:Pain Insensitivity, Congenital / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000151:congenital*; D011183:Postoperative Complications; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D014276:Trigeminal Nerve / Q000002:abnormalities* / Q000473:pathology