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A Case of Trichorhinophalangeal Syndrome Type III

Other Title
제 3형 Trichorhinophalangeal Syndrome 1예
Authors
이, 상원; 김, 유찬; 노, 기웅; 신, 용우
Citation
Korean journal of dermatology, 42(5):620-623, 2004
Journal Title
Korean journal of dermatology; 대한피부과학회지
ISSN
0494-4739
Abstract
Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder characterized by a number of clinical features including slowly growing sparse scalp hair, a pear-shaped nose, and cone-shaped epiphyses of the phalanges. The syndrome has three subgroups: type I , II, and M. TRPS III is the rarest and most recently recognized form and inherited in an autosomal dominant manner. We describe a 19-year-old male with TRPS III, who presented with characteristic clinical and radiological features. To our knowledge, this is the first report of TRPS III in Korea.
Keywords
Trichorhinophalangeal syndrome type III
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Dermatology
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