Congenital facial neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome). 1976

S Aleksic, and G Budzilovich, and R Reuben, and H C Sekhar, and I Feigin, and M Finegold, and D Boal, and N Tokita, and J M Converse

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.

UI MeSH Term Description Entries
D008297 Male Males
D008342 Mandibulofacial Dysostosis A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) MFD1 Mandibulofacial Dysostosis,Treacher Collins Syndrome,Franceschetti-Zwahlen-Klein Syndrome,Mandibulofacial Dysostosis (MFD1),Treacher Collins-Franceschetti Syndrome,Dysostoses, MFD1 Mandibulofacial,Dysostoses, Mandibulofacial,Dysostoses, Mandibulofacial (MFD1),Dysostosis, MFD1 Mandibulofacial,Dysostosis, Mandibulofacial,Dysostosis, Mandibulofacial (MFD1),Franceschetti Zwahlen Klein Syndrome,Franceschetti-Zwahlen-Klein Syndromes,MFD1 Mandibulofacial Dysostoses,Mandibulofacial Dysostoses,Mandibulofacial Dysostoses (MFD1),Mandibulofacial Dysostoses, MFD1,Mandibulofacial Dysostosis, MFD1,Syndrome, Franceschetti-Zwahlen-Klein,Syndrome, Treacher Collins,Syndrome, Treacher Collins-Franceschetti,Syndromes, Franceschetti-Zwahlen-Klein,Syndromes, Treacher Collins-Franceschetti,Treacher Collins Franceschetti Syndrome,Treacher Collins-Franceschetti Syndromes
D001933 Brain Stem The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA. Brainstem,Truncus Cerebri,Brain Stems,Brainstems,Cerebri, Truncus,Cerebrus, Truncus,Truncus Cerebrus
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002971 Cleft Lip Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. Harelip,Cleft Lips,Harelips,Lip, Cleft,Lips, Cleft
D005154 Facial Nerve The 7th cranial nerve. The facial nerve has two parts, the larger motor root which may be called the facial nerve proper, and the smaller intermediate or sensory root. Together they provide efferent innervation to the muscles of facial expression and to the lacrimal and SALIVARY GLANDS, and convey afferent information for TASTE from the anterior two-thirds of the TONGUE and for TOUCH from the EXTERNAL EAR. Cranial Nerve VII,Marginal Mandibular Branch,Marginal Mandibular Nerve,Seventh Cranial Nerve,Nerve VII,Nerve of Wrisberg,Nervus Facialis,Nervus Intermedius,Nervus Intermedius of Wrisberg,Cranial Nerve VIIs,Cranial Nerve, Seventh,Facial Nerves,Mandibular Nerve, Marginal,Mandibular Nerves, Marginal,Marginal Mandibular Nerves,Nerve VIIs,Nerve, Facial,Nerve, Marginal Mandibular,Nerve, Seventh Cranial,Nerves, Marginal Mandibular,Nervus Faciali,Seventh Cranial Nerves,Wrisberg Nerve,Wrisberg Nervus Intermedius
D005158 Facial Paralysis Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis. Facial Palsy,Hemifacial Paralysis,Facial Palsy, Lower Motor Neuron,Facial Palsy, Upper Motor Neuron,Facial Paralysis, Central,Facial Paralysis, Peripheral,Facial Paresis,Lower Motor Neuron Facial Palsy,Upper Motor Neuron Facial Palsy,Central Facial Paralyses,Central Facial Paralysis,Facial Palsies,Facial Paralyses, Central,Facial Paralyses, Peripheral,Palsies, Facial,Palsy, Facial,Paralyses, Central Facial,Paralyses, Facial,Paralyses, Hemifacial,Paralysis, Central Facial,Paralysis, Facial,Paralysis, Hemifacial,Paralysis, Peripheral Facial,Pareses, Facial,Paresis, Facial,Peripheral Facial Paralysis
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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