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Rare disease
Ellis van Creveld syndrome–a report of two siblings
  1. Karthik Hegde1,
  2. Reema Manoj Puthran2,
  3. Gopakumar Nair3,
  4. Preeti P Nair1
  1. 1Oral Medicine and Radiology Department, People’s College of Dental Sciences & Research Centre, Bhopal, Madhya Pradesh, India
  2. 2Oral Medicine and Radiology Department, DY Patil Dental College and Hospital, Navi Mumbai, Maharashtra, India
  3. 3Oral Medicine and Radiology Department, Mahatma Gandhi Dental College and Hospital, Jaipur, Rajasthan, India
  1. Correspondence to Professor Preeti P Nair, shajihoss{at}gmail.com

Summary

Chondro-ectodermal dysplasia is a rare autosomal recessive disorder which affects the ectodermal, mesodermal and endodermal derivatives. There are numerous conditions reported under this title which include Ellis van Creveld syndrome. The oral findings include multiple gingivolabial frena, dental abnormality, malocclusion and hypodontia. The diagnosis of Ellis van Creveld syndrome is based on the presence of oral mucosal changes like notching of the lower alveolus, fusion of the upper lip and gingival mucosa; dental changes like oligodontia, conical shape of anterior teeth and occasional presence of neonatal teeth. The authors report a rare case of Ellis van Creveld syndrome occurring among two siblings with oral mucosal, dental and skeletal abnormalities.

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  • Competing interests None.

  • Patient consent Obtained.

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