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Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence.
- Source :
-
Cureus [Cureus] 2022 Oct 02; Vol. 14 (10), pp. e29846. Date of Electronic Publication: 2022 Oct 02 (Print Publication: 2022). - Publication Year :
- 2022
-
Abstract
- Ellis-Van Creveld syndrome (EVCS) is an abnormal genetic condition of the EVC2 gene located on chromosome 4. In this case, the person presents with bone growth abnormalities, thus having a short stature, short arms and legs (more commonly the forearm and lower leg), a narrow chest with short ribs, polydactyly, spoon-shaped or malformed nails, abnormalities in dentition, and congenital heart defects like atrial septal defects and ventricular septal defects. In this case report, we present a 4.5-year-old female child who presented with cough and cyanosis as signs and tachypnea, tachycardia, facial oedema, cold, and clubbing as symptoms with polydactyly and short stature focuses on a rare presentation of a syndromic disease known as EVCS.<br />Competing Interests: The authors have declared that no competing interests exist.<br /> (Copyright © 2022, Ghosh et al.)
Details
- Language :
- English
- ISSN :
- 2168-8184
- Volume :
- 14
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Cureus
- Publication Type :
- Report
- Accession number :
- 36381850
- Full Text :
- https://doi.org/10.7759/cureus.29846