Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome). A clinicopathologic study and review of the literature. 1976

S Aleksic, and G Budzilovich, and A Choy, and R Reuben, and C Randt, and M Finegold, and J McCarthy, and J Converse, and I Feigin

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.

UI MeSH Term Description Entries
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
D009886 Ophthalmoplegia Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles. Oculomotor Paralysis,External Ophthalmoplegia,Internal Ophthalmoplegia,Ophthalmoparesis,External Ophthalmoplegias,Internal Ophthalmoplegias,Ophthalmopareses,Ophthalmoplegia, External,Ophthalmoplegia, Internal,Ophthalmoplegias,Ophthalmoplegias, External,Ophthalmoplegias, Internal,Paralysis, Oculomotor
D009915 Orbit Bony cavity that holds the eyeball and its associated tissues and appendages. Eye Socket,Eye Sockets,Orbits,Socket, Eye,Sockets, Eye
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
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003394 Craniofacial Dysostosis Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia. Crouzon's Disease,Dysostosis, Craniofacial,Craniofacial Dysarthrosis,Craniofacial Dysostosis Syndrome,Craniofacial Dysostosis Type 1,Craniofacial Dysostosis, Type I,Crouzon Craniofacial Dysostosis,Crouzon Disease,Crouzon Syndrome,Craniofacial Dysarthroses,Craniofacial Dysostoses,Craniofacial Dysostosis Syndromes,Craniofacial Dysostosis, Crouzon,Crouzons Disease,Dysarthroses, Craniofacial,Dysarthrosis, Craniofacial,Dysostoses, Craniofacial
D005123 Eye The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light. Eyes
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000010 Abducens Nerve The 6th cranial nerve which originates in the ABDUCENS NUCLEUS of the PONS and sends motor fibers to the lateral rectus muscles of the EYE. Damage to the nerve or its nucleus disrupts horizontal eye movement control. Cranial Nerve VI,Sixth Cranial Nerve,Abducent Nerve,Nerve VI,Nervus Abducens,Abducen, Nervus,Abducens, Nervus,Abducent Nerves,Cranial Nerve VIs,Cranial Nerve, Sixth,Nerve VI, Cranial,Nerve VIs,Nerve VIs, Cranial,Nerve, Abducens,Nerve, Abducent,Nerve, Sixth Cranial,Nerves, Sixth Cranial,Nervus Abducen,Sixth Cranial Nerves

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