Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rothmund-Thomson syndrome (RTS) is an extremely rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. It has an autosomal, recessive inheritance and its signs begin at childhood. Essential dermatological alteration is poikilodermatosis. A large head with an frontal bossing and broad low nasal bridge has been described in patients with RTS. Bilateral juvenile cataract is a characteristic finding of patients with RTS. Most of the patients have been markedly short and the growth retardation has been proportionate. Mental retardation is a rare condition. An 11-year-old girl who had been previously diagnosed with RTS was consulted with a chief complaint of delaying in tooth eruption. Intraoral examination revealed median rhomboid glossitis in addition to hyperkeratotic tongue. This report aimed to not only present intraoral findings of RTS, but also to demonstrate the lingual findings of a patient with RTS.
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PMID:Oral findings of rothmund-thomson syndrome. 2436 41