Adult survival in Ellis-van creveld syndrome with common atrium – A rare case report

Mugula Sudhakar Rao, Devavrata Sahu, Hashir Kareem, Tom Devasia, Kishor Kumar Shetty

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1 Citation (Scopus)

Abstract

Ellis van Creveld syndrome is a rare genetic disorder, characterized by chondral dysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. Patients with the syndrome rarely survive into adulthood. The syndrome has also been rarely reported in the Indian population. We present the case of a 56 year old female who presented with post-menopausal bleeding, and was diagnosed with Ellis van Creveld syndrome, with a common atrium and common atrioventricular valve.

Original languageEnglish
Pages (from-to)OD12-OD13
JournalJournal of Clinical and Diagnostic Research
Volume11
Issue number8
DOIs
Publication statusPublished - 01-08-2017

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

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