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

A 10-year-old female with a generalized bone dysplasia was found to have a rare condition, Melnick-Needles syndrome. Characteristic clinical features of this syndrome include exophthalmos, hypertelorism, micrognathia, malaligned teeth, and large ears in a person with multiple bone deformities. In addition to the usual characteristic clinical findings, sclerocornea and cornea plana were also present in this patient. This is the first case of Melnick-Needles syndrome reported in the ophthalmological literature and the first case reported with ophthalmological findings other than exophthalmos and strabismus.
J Pediatr Ophthalmol Strabismus
PMID:Melnick-Needles syndrome. 10 22