All issues > Volume 35(8); 1992

Case Report

J Korean Pediatr Soc. 1992;35(8):1135-1140. Published online August 15, 1992.

A Familial Case of Tricho-Rhino-Phalangeal Syndrome

Kyong Ok KO Ko¹, Sang Hyun SH Byun¹, Jong Jin JJ Seo¹, Kun Su KS Rhee¹, Young Hun YH Chung¹, Yong Bae YB Sin²

¹Department of Pediatrics, School of Medicine, Chungnam National University, Taejeon, Korea
²Department of Pediatrics, Hong Seong Medical Center, Chungnam, Korea

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.

Keywords :Tricho-Rhino-Phalangeal sumdrome