TY - JOUR
T1 - Adult survival in Ellis-van creveld syndrome with common atrium – A rare case report
AU - Rao, Mugula Sudhakar
AU - Sahu, Devavrata
AU - Kareem, Hashir
AU - Devasia, Tom
AU - Shetty, Kishor Kumar
N1 - Publisher Copyright:
© 2017, Journal of Clinical and Diagnostic Research. All rights reserved.
PY - 2017/8/1
Y1 - 2017/8/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85028353660
UR - https://www.scopus.com/inward/citedby.url?scp=85028353660&partnerID=8YFLogxK
U2 - 10.7860/JCDR/2017/25126.10454
DO - 10.7860/JCDR/2017/25126.10454
M3 - Article
AN - SCOPUS:85028353660
SN - 2249-782X
VL - 11
SP - OD12-OD13
JO - Journal of Clinical and Diagnostic Research
JF - Journal of Clinical and Diagnostic Research
IS - 8
ER -