Publication: Coffin-Siris Syndrome in Two Sisters in Nepal
Date
2013
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
Coffin-Siris syndrome (CSS) has the characteristic feature of brachydactyly of the fifth digit of hands and feet accompanying cognitive and developmental delay. There is an overlap of symptoms with other conditions making the diagnosis of CSS difficult. An algorithm to look for a set of characters was followed for diagnosis of CSS in two sisters in Nepal. This is the first case of CSS reported from this country.
Description
Anil Ojha
Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu
Chin-To Fong
University of Rochester School of Medicine and Dentistry, Rochester, NY
Arti Sharma Pandey
Kathmandu Medical College, Basic Sciences Block, Duwakot, Bhaktapur
Keywords
Coffin Syris, ectoderm, hypertrichosis, mental retardation