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Triko-rino-falanjiyal sendrom Tip 1, bulboz burun, seyrek saclar, uzun duz filtrum, epifizlerde konilesme ile karakterize nadir gorulen bir hastaliktir. Yazimizda 15 yasinda Triko-rino-falanjiyal Sendrom Tip 1 tanisi koydugumuz bir kiz hastayi sunduk. Fizik muayenesinde sac anormallikleri, bulboz burun, uzun duz filtrum, falangslarda sekil bozuklugu ve kanat skapulasi mevcuttu. Genetik calisma sonuclari ve radyolojik incelemeler tanimizi destekledi. Kas-iskelet sisteminde bozukluk ile seyreden Triko-rino-falanjiyal Sendrom Tip 1 baslangicta juvenil romatoid artriti taklit edebilir. Kas-iskelet sistemi deformiteleri juvenil romatoid artrit ayirici tanisinda goz onunde bulundurulmalidir.

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