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A case with Trico-rhino-phalangeal syndrome type 1 case with a preliminary diagnosis of Juvenile rheumatoid arthritis

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Author(s): Çiğdem Aliosmanoğlu | Zehra Şule Haskaloğlu | Ömer Cevit

Journal: Journal of Clinical and Experimental Investigations
ISSN 1309-8578

Volume: 2;
Issue: 4;
Start page: 441;
Date: 2011;
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Keywords: Thrico-rhino-falangeal syndrome type I | Juvenile rheumatoid arthritis | diagnosis

ABSTRACT
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. J Clin Exp Invest 2011; 2 (4): 441-442
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