Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.
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PMID:An oculocerebrofacial syndrome. 500 10

We report organoid nevus with left oculo-orbital choristoma fixing the globe in hypotropia, precanthal skin tag, and upper eyelid coloboma and right limbal dermoid. Computed tomography revealed a dilated lateral ventricle and cerebral atrophy. No neurologic deficit existed. The coloboma was repaired, choristoma debulked, and precanthal tag excised.
J Pediatr Ophthalmol Strabismus
PMID:Atypical oculo-orbital complex choristoma in organoid nevus syndrome. 1659 83

The authors describe a patient with oculocerebrocutaneous syndrome, also called Delleman-Oorthuys syndrome. This patient is the first reported case in Turkey. The 19-month-old boy had characteristic features of oculocerebrocutaneous syndrome, such as unilateral orbital cyst, skin tags and skin hypoplasia, hypoplastic left cerebellar hemisphere, Dandy-Walker variant anomaly, corpus callosum agenesis, and left cerebral hemispheric diffuse migration anomaly.
J Pediatr Ophthalmol Strabismus
PMID:Oculocerebrocutaneous syndrome. 1852

A female infant with horizontal nystagmus and normal ophthalmic examination had isolated absence of the optic chiasm on magnetic resonance imaging. Eye movements were recorded on video and reviewed. Horizontal nystagmus without see-saw nystagmus was observed. Visual evoked potential showed inter-hemispheric asymmetry compatible with the absence of crossing chiasmal fibers. Systemic abnormalities in this patient included cleft lip, preauricular skin tags, broad thumbs, and an anteriorly positioned anus, suggestive of Townes-Brock syndrome.
J Pediatr Ophthalmol Strabismus
PMID:Absent optic chiasm presenting with horizontal nystagmus. 2050 4

An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right sided aortic arch, and associated left pulmonary agenesis. The patient did not have any associated respiratory symptoms. Ipsilateral pulmonary agenesis is considered as a rare association with Goldenhar syndrome and a case of contralateral pulmonary aplasia has been described as an even rarer association.
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PMID:A Constellation of Rare Findings in a Case of Goldenhar Syndrome. 2860 92