Ellis-van creveld syndrome (chondroectodermal dysplasia): Case report and review of literature.

Ellis-van Creveld syndrome, a rare genetic skeletal dysphasia, with shortening of distal part of the extremities, polydactyly, fusion of the hamates and capitates bones of the wrist, dystrophy of the fingernails and cardiac malformation usually a septal defect and often single atrium. An autosomal recessive pattern of inheritance has been well established. We report here a none-month-old boy with disproportionate short stature, particularly acromelic dwarfism, polydactyly and syndactyly of hands and feet and natal teeth. Radiographic findings revealed the characteristic changes. The diagnosis of genetic skeletal dysphasia is made by clinical findings and confirmed by radiological examination. Genetic counseling and prenatal diagnosis are of utmost importance.