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. 2015 May-Aug;5(2):98-101.
doi: 10.1016/j.jobcr.2015.05.003. Epub 2015 Jun 10.

A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review

Prashanth Shetty  1 , Deepthi Shetty  2 , P S Priyadarshana  2 , Smitha Bhat  2
Affiliations

A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review

Prashanth Shetty et al. J Oral Biol Craniofac Res. 2015 May-Aug.

Abstract

Ellis Van Creveld syndrome (EVC) is a rare genetic disorder having autosomal recessive inheritance affecting the Amish population of Pennsylvania in USA with incidence of 1:244,000 for the general population. This syndrome consists of characteristic features such as bilateral postaxial polydactyly, chondroectodermal dysplasia, congenital heart defects and hypoplastic nails and teeth. There are few case reports of this syndrome reported in dental literature. We report a case of a 17 year old female presenting typical features of this syndrome and the oral findings of this patient which are the key diagnostic features.

Keywords: Chondroectodermal dysplasia; Ellis Van Creveld syndrome; Polydactyly.

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Figures

Fig. 1
Fig. 1
Facial photograph.
Fig. 2
Fig. 2
Polydactyly of the lower limbs with dystrophic nails.
Fig. 3
Fig. 3
Hexadactyly noted on the ulnar side.
Fig. 4
Fig. 4
Multiple accessory upper labiogingival frenula with absence of mucobuccal fold.
Fig. 5
Fig. 5
Ankyloglossia, anodontia of the lower incisors and enamel hypoplasia.
Fig. 6
Fig. 6
Hand wrist radiograph.
See this image and copyright information in PMC

References

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