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 CASE REPORTS
Year : 1995  |  Volume : 61  |  Issue : 2  |  Page : 111--112

Trichorhinophalangeal syndrome type 1


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
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Source of Support: None, Conflict of Interest: None


PMID: 20952908

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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.






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Online since 15th March '04
Published by Wolters Kluwer - Medknow