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Ellis-van Creveld syndrome in an Indian child: a case report

K M Veena1, H Jagadishchandra, Prasanna Kumar Rao

  • 1Department of Oral Medicine and Radiology, Yenepoya Dental College, Yenepoya University, Mangalore, India.

Imaging Science in Dentistry
|January 11, 2012
PubMed

Insights

Ellis-van Creveld syndrome is a rare genetic disorder with distinct oral findings, including polydactyly and dwarfism. Early dental diagnosis is crucial for managing this condition affecting speech and jaw growth.

Area of Science:

  • Genetics
  • Pediatrics
  • Dentistry

Background:

  • Ellis-van Creveld syndrome (EvCS) is a rare autosomal recessive congenital disorder.
  • It disproportionately affects the Amish population with a prevalence of 1/5,000 live births, contrasting with 7/1,000,000 in non-Amish populations.

Observation:

  • EvCS is characterized by postaxial polydactyly, acromesomelic dwarfism due to chondrodysplasia, ectodermal dysplasia (nails, teeth), and congenital heart defects.
  • Oral manifestations, though rarely reported in dentistry, are striking and constant diagnostic features.

Findings:

  • The study highlights the significant oral findings in Ellis-van Creveld syndrome patients.
  • These oral features serve as key diagnostic indicators for the syndrome.

Implications:

  • Dentists play a vital role in the early diagnosis and management of EvCS.
  • Addressing oral manifestations is essential for improving aesthetics, speech, and jaw growth in affected children.

Keywords:
Ellis-Van Creveld SyndromeGenu ValgumPostaxial Polydactyly

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