PT  - JOURNAL ARTICLE
AU  - Karthik Hegde
AU  - Reema Manoj Puthran
AU  - Gopakumar Nair
AU  - Preeti P Nair
TI  - Ellis van Creveld syndrome–a report of two siblings
AID  - 10.1136/bcr.09.2011.4774
DP  - 2011 Oct 14
TA  - BMJ Case Reports
PG  - bcr0920114774
VI  - 2011
4099  - http://casereports.bmj.com/content/2011/bcr.09.2011.4774.short
4100  - http://casereports.bmj.com/content/2011/bcr.09.2011.4774.full
AB  - 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.