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Case Reports
PMID: 20952908
Trichorhinophalangeal syndrome type 1
Nitin S Vora, Samir Shah, Jayendra N Dave, Amiyakumar Mukhopadhyay, Kathakali Roy, Arghyaprasun Ghose, Benny J Cardoso
Department of Skin and STD, Bapunagar General Hospital (ESIS), Ahmedabad-380024, India
Correspondence Address:
Nitin S Vora
F-1 Premanand Apartment, Opp. Punjabi Hall, Navrangpura. Ahmedabad-380009
India
Correspondence Address:
Nitin S Vora
F-1 Premanand Apartment, Opp. Punjabi Hall, Navrangpura. Ahmedabad-380009
India
| How to cite this article: Vora NS, Shah S, Dave JN, Mukhopadhyay A, Roy K, Ghose A, Cardoso BJ. Trichorhinophalangeal syndrome type 1. Indian J Dermatol Venereol Leprol 1995;61:111-112 |
Copyright: (C)1995 Indian Journal of Dermatology, Venereology, and Leprology
Abstract
A case of trichorhinophalangeal syndrome type I (TRPS- I) in a 10 year old Muslim girl is reported. She has typical features of hypotrichosis, pear-shaped nose, long philtrum, receding chin, and deformed angulated fingers. Radiology showed characteristic cone-shaped epiphyses of middle phalanges. An autosomal recessive mode of inheritance is surmised.
Keywords: Sparse hair, Long philtrum, Bulbous nose, Deformed fingers, Cone shaped phalangeal epiphyses
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