Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Absent optic chiasm presenting with horizontal nystagmus. 2050 4

A 6-year-old girl presented with bilateral hearing loss. Her otologic, birth, and family histories were limited, given that she was adopted, but her parents reported that she had had difficulty hearing and speaking ever since they adopted her at 2 years of age. Her parents denied a history of acute otitis media, otorrhea, otalgia, vertigo, autophony, or tinnitus since her adoption. At 2.5 years of age, a diagnosis of hearing loss was made, and she was given hearing aids. Her parents believed that she had been doing well with both receptive and expressive language since she had received the hearing aids. At examination, she had small bilateral preauricular skin tags and normal pinna. Her external auditory canals were of a normal caliber bilaterally, with no otorrhea or lesions. The tympanic membranes were translucent and mobile at pneumatic otoscopy. There was no evidence of a middle ear lesion, nor was there a Schwartz sign. She had no nystagmus or vertigo at pneumatic otoscopy. Audiometry was performed and revealed moderate to severe conductive hearing loss bilaterally, with a mixed component present at 2000 KHz. She had normal bilateral middle ear pressure at tympanometry. Thin-section computed tomography (CT) of the temporal bone was performed.
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PMID:Case 226: Oval Window Atresia. 2678 5