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)

Chondrodysplasia punctata is a multisystem disorder, primarily involving the musculoskeletal system, skin, and eyes. Children with the rhizomelic form of this syndrome have characteristic facies with a saddle-nose deformity, hypertelorism, and frontal bossing. The musculoskeletal changes include proximal limb shortening, flexion contractures, congenital hip dislocations, and the characteristic radiographic finding of epiphyseal stippling of the axial skeleton and long bones. The most common ocular findings are cataracts and optic atrophy. We describe herein the first reported case of microspherophakia in association with the rhizomelic form of chondrodysplasia punctata.
J Pediatr Ophthalmol Strabismus
PMID:Microspherophakia in association with the rhizomelic form of chondrodysplasia punctata. 224 35