| A Familial Case of Tricho-Rhino-Phalangeal Syndrome |
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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 |
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고경옥1, 변상현1, 서종진1, 이건수1, 정용헌1, 신용배2 |
1충남대학교 의과대학 소아과학교실
2홍성의료원 |
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| Abstract |
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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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