Trichorhinophalangeal syndrome type 1
Nitin S Vora
F-1 Premanand Apartment, Opp. Punjabi Hall, Navrangpura. Ahmedabad-380009
|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
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.