A case with Trico-rhino-phalangeal syndrome type 1 case with a preliminary diagnosis of Juvenile rheumatoid arthritis
Çiğdem Aliosmanoğlu 1 * , Zehra Şule Haskaloğlu, Ömer Cevit
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1 Dicle Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Diyarbakır, Turkey* Corresponding Author


Thrico-rhino-falangeal syndrome is a rare disease characterized by a bulbous nose, sparse hairs, a long flat philtrum, and epiphyseal coning. We describe here in a 15 year old girl with Thrico-rhino-falangeal syndrome type 1 (TRPS I). Physical examination demonstrated bulbous nose, hair abnormalities, deformity of the phalanges and winged scapulae. Genetic study and radiologic findings confirmed the diagnosis. Thrico-rhino-falangeal syndrome is characterized by musculoskeletal deformities that at the first view may simulate juvenile idiopathic arthritis. These musculoskeletal deformities could imply the differential diagnosis with juvenile idiopathic arthritis.


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Article Type: Case Report

J Clin Exp Invest, 2011, Volume 2, Issue 4, 441-442


Publication date: 12 Dec 2011

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