Gene/Protein
Disease
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Pivot Concepts:
Gene/Protein
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Target Concepts:
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Query: UMLS:C0029089 (
ophthalmoplegia
)
3,338
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome). A clinicopathologic study and review of the literature. 94 12