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A Familial Case of Tricho-Rhino-Phalangeal Syndrome

Journal of the Korean Pediatric Society 1992;35(8):1135-1140.
Published online August 15, 1992.
A Familial Case of Tricho-Rhino-Phalangeal Syndrome
Kyong Ok Ko1, Sang Hyun Byun1, Jong Jin Seo1, Kun Su Rhee1, Young Hun Chung1, Yong Bae Sin2
1Department of Pediatrics, School of Medicine, Chungnam National University, Taejeon, Korea
2Department of Pediatrics, Hong Seong Medical Center, Chungnam, Korea
한가족내의 Tricho-Rhino-Phalangeal 증후군
고경옥1, 변상현1, 서종진1, 이건수1, 정용헌1, 신용배2
1충남대학교 의과대학 소아과학교실
2홍성의료원
Abstract
We experienced a familial case of Tricho-Rhino-Phalangeal syndrome in a 12-year-6-month-old girl, her younger sister and father. The diagnosis was made by family history history, characteristic morphologic clinical features of bulbous nose, sparse thin hair and deformity of hand and radiologic findings of cone shape epiphyses and Legg-perthes like change of right femoral capital epiphysis. A brief review of the related literatures was also made.
Key Words: Tricho-Rhino-Phalangeal sumdrome


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