Ellis-Van Creveld syndrome: a case report

Authors

  • Nisarga B. Kunte Department of Pediatrics, ESIC Medical College, Gulbarga, Karnataka, India http://orcid.org/0000-0002-7711-0289
  • Rakesh Amruth Navale Department of Pediatrics, ESIC Medical College, Gulbarga, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20222128

Abstract

Ellis-Van Creveled (EVC) syndrome, also called chondroectodermal dysplasia, is a rare genetic disorder with autosomal recessive type of inheritance with 25% risk of transmission to subsequent pregnancies. The syndrome is due to mutation of EVC1 and EVC2 genes on chromosome 4p16, characterized by acromesomalic dwarfism, bilateral postaxial polydactyly, ectodermal dysplasia affecting nails, teeth and congenital heart malformation. One third of the patients die at an early age or during infancy from cardio respiratory problems. The birth prevalence of EVC syndrome is 1/5000 live births in Amish population and 7/1,000,000 live birth in non-Amish population. There are a very few case reports in the literature. We reported a case of 14-year male presenting with typical features of this syndrome.    

Author Biographies

Nisarga B. Kunte, Department of Pediatrics, ESIC Medical College, Gulbarga, Karnataka, India

junior Resident , ESIC Hospital, Vapi, Gujarat

Rakesh Amruth Navale, Department of Pediatrics, ESIC Medical College, Gulbarga, Karnataka, India

Assistant Professor, Department of Pediatrics

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Published

2022-08-24

Issue

Section

Case Reports