Abstract A year-old male patient was admitted to the hospital with complaints of retardation in physical and sexual development. He had been diagnosed with juvenile rheumatoid arthritis 15 years previously and treated with salicylazosulfapyridine 2x2 g and 30 mg prednisolone daily since diagnosis. His height was cm less than 3rd percentile , and his weight was 24 kg less than 3rd percentile. He had no beard, mustache, axillary, or pubic hair, and had a cushingoid appearence. He had neither erection nor ejaculation. Growth retardation has been shown in patients with juvenile rheumatoid arthritis.
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Abstract: Thrico-rhino-falangeal syndrome is a rare disease characterized by a bulbous nose, sparse hairs, a long flat philtrum, and epiphyseal coning.
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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Juvenil romatoid artrit ön tanılı Triko-rino-falanjiyal sendrom Tip 1 olgusu.
juvenil romatoid artrit