Abstract
Ellis-Van Creveld syndrome is an autosomal recessive disorder of skeletal dysplasia. It is also known as chondroectodermal dysplasia or mesoectodermal dysplasia. Six fingered dwarfism was an alternative designation used for this condition. It is characterized by chondroectodermal dysplasia, polydactyly, congenital heart defects and hypoplastic nails and teeth. Mutations of EVCl and EVC2 genes located in head to head configuration on chromosome 4p16 have been identified as causative along with parental consanguinity.
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Corresponding Author
Dr G. Ratna Madhuri
Department of General Medicine, Rangaraya Medical College, India
DOI: https://dx.doi.org/10.18535/jmscr/v8i1.170
