Abstract
Ellis-van Creveld syndrome is a rare autosomal recessive disorder. It is a chondroectodermal dysplasia characterized bychondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. Oral manifestations include fusion of the upper lip to the gingival margin, presence of multiple frenum, abnormally shaped and microdontic teeth, malocclusion, and congenitally missing teeth. Patients with EVC syndrome require multidisciplinary approach. Because of its unique oral and dental manifestations and its association with cardiac problems, dentist plays an important role in managing dental discrepancies and diagnosing possible serious health conditions beforehand.
Highlights
Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare autosomal recessive disease caused by mutations of the EVC1 and EVC2 genes positioned in a head-to-head configuration on chromosome 4p16 [1]
We describe a clinical case of a patient who visited the Tamil Nadu Govt
Bilateral postaxial polydactyly of the hands, with the Figure 7: supernumerary finger usually being on the ulnar side
Summary
Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare autosomal recessive disease caused by mutations of the EVC1 and EVC2 genes positioned in a head-to-head configuration on chromosome 4p16 [1]. The principal features of this syndrome are chondroectodermal dysplasia, polydactyly and congenital heart defects. The patients have small stature, short limbs, fine sparse hair and hypoplastic fingernails. Oral manifestations include multiple musculofibrousfrenum, dental transposition, conical teeth, hypoplasia of the enamel, hypodontia and malocclusion. We describe a clinical case of a patient who visited the Tamil Nadu Govt.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
