Official publication of Magadh University and Kolhan University, Government of Bihar and Jharkhand, India
Year : 2015
Volume : Volume 5
Issue : Issue 2
Address for correspondence :
Penumatsa Ramanjaneya Raju
dromfr77@gmail.com
Background: Chondroectodermal dysplasia is a rare autosomal recessive disorder with a complex phenotype characterized by chondrodystrophy, postaxial polydactyly, ectodermal dysplasia and cardiac anomalies. We present the case of a 19 year-old Indian male with unaffected parents and an affected elder sister. No cardiac anomalies were noticed and bilateral post axial polydactyly was evident in both the upper and lower limbs. The importance of oral care should be emphasized in affected patients without cardiac abnormalities as they have increased life expectancy and oral rehabilitation could improve the quality of life in these patients.
Keywords: Postaxial polydactyly; ectodermal dysplasia; chondrodystrophy; Ellis-van creveld syndrome.