| Literature DB >> 28969186 |
Mugula Sudhakar Rao1, Devavrata Sahu2, Hashir Kareem3, Tom Devasia4, Kishor Kumar Shetty5.
Abstract
Ellis-van Creveld syndrome is a rare genetic disorder, characterized by chondral dysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. Patients with this 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.Entities:
Keywords: Genetic disorder; Polydactyly; Post-menopausal bleeding
Year: 2017 PMID: 28969186 PMCID: PMC5620827 DOI: 10.7860/JCDR/2017/25126.10454
Source DB: PubMed Journal: J Clin Diagn Res ISSN: 0973-709X