Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0022568 (
keratitis
)
5,133
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Neurological studies were performed in a young boy with
keratitis
, ichthyosis and deafness syndrome. Skin biopsy showed features of ichthyosis. Clinically and electrophysiologically, he had normal motor and sensory systems, but there was an acoustic
nerve lesion
and absence of tendon reflexes. Audiometry and brainstem auditory evoked potentials showed bilateral neurosensory deafness. Poor vision may not be due to an optic
nerve lesion
as evidenced on visual evoked potential findings, but is probably due to pronounced vascularizing
keratitis
of the cornea. Computer tomography scan showed mild hypoplasia of the inferior vermis and left side of the cerebellum.
...
PMID:Clinical and electrophysiological studies in a patient with keratitis, ichthyosis and deafness (KID) syndrome. 355 95