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Ellis van Creveld syndome

Jaishree Ghanekar1, Sujata Sangrampurkar, Raman Hulinaykar

  • 1Department of Medicine, MGM Medical College, Navi Mumbai.

The Journal of the Association of Physicians of India
|March 25, 2010
PubMed

Insights

Ellis-van Creveld syndrome (EVC), a rare genetic disorder, causes skeletal and ectodermal abnormalities. This case highlights its presentation in a young Indian woman with consanguineous parents.

Area of Science:

  • Genetics
  • Medical Genetics
  • Rare Diseases

Background:

  • Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease.
  • While its exact prevalence is unknown, EVC appears more common in specific populations like the Amish and has been reported in India.

Observation:

  • This report details a classical case of EVC syndrome in a 22-year-old woman of Indian origin.
  • The patient's parents were consanguineous, a factor sometimes associated with recessive genetic disorders.

Findings:

  • The patient exhibited key features of EVC, including disproportionate dwarfism due to chondrodysplasia of tubular bones.
  • Additional findings included postaxial polydactyly, dystrophic nails, partial anodontia, pectus excavatum, knock knees, and an atrioventricular canal defect.

Implications:

  • This case contributes to the understanding of EVC's phenotypic variability and its occurrence in diverse populations.
  • It underscores the importance of recognizing the constellation of symptoms for timely diagnosis and management of EVC syndrome.
  • Further research into the genetic and epidemiological aspects of EVC in different ethnic groups is warranted.

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