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Related Experiment Videos

Ellis Van Creveld syndrome.

S Shilpy1, M Nikhil, D Samir

  • 1Department of Pedodontics and Preventive Dentistry, Govt. Dental College, Rohtak - 124 001, Haryana, India.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
|December 6, 2007
PubMed
Summary
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Ellis Van Creveld syndrome, a rare form of short-limbed dwarfism, presents with distinct clinical features. This case report details a classical presentation in a young boy, highlighting key diagnostic markers.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

Background:

  • Ellis Van Creveld syndrome is a rare autosomal recessive disorder.
  • It is characterized by a tetrad of disproportionate dwarfism, post-axial polydactyly, ectodermal dysplasia, and congenital heart defects.

Observation:

  • This case report describes a seven-year-old boy with classical clinical findings of Ellis Van Creveld syndrome.
  • The patient presented with features consistent with the known diagnostic criteria.

Findings:

  • The patient exhibited disproportionate short-limbed dwarfism.
  • Additional findings included post-axial polydactyly and ectodermal dysplasia.
  • Congenital heart defects, a key component of the syndrome, were also noted.

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Implications:

  • This case reinforces the diagnostic criteria for Ellis Van Creveld syndrome.
  • Early identification and management of associated heart defects are crucial.
  • Understanding rare genetic disorders aids in comprehensive patient care and genetic counseling.