Coffin-Siris Syndrome in Two Sisters in Nepal

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v33i2.8079

Keywords:

Coffin Syris, ectoderm, hypertrichosis, mental retardation

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.

DOI: http://dx.doi.org/10.3126/jnps.v33i2.8079

J Nepal Paediatr Soc. 2013; 33(2):132-135

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Author Biographies

Anil Ojha, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu

Assistant Professor, Department of Paediatrics

Chin-To Fong, University of Rochester School of Medicine and Dentistry, Rochester, NY

Associate Professor and Chief, Division of Paediatric Genetics, Department of Paediatrics

Arti Sharma Pandey, Kathmandu Medical College, Basic Sciences Block, Duwakot, Bhaktapur

Associate Professor and Head, Department of Biochemistry

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Published

2013-10-07

How to Cite

Ojha, A., Fong, C.-T., & Pandey, A. S. (2013). Coffin-Siris Syndrome in Two Sisters in Nepal. Journal of Nepal Paediatric Society, 33(2), 132–135. https://doi.org/10.3126/jnps.v33i2.8079

Issue

Vol. 33 No. 2 (2013)

Section

Brief Reports/Case Reports/Case Series

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