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Chondro-ectodermal dysplasia (Ellis-Van-Creveld syndrome)
Abstract
It is the purpose of this paper to discuss briefly the diagnosis, the variability of the manifestations, and the hereditary factors in the syndrome of chondro-ectodermal dysplasia (Ellis-van-Creveld syndrome).1,2 The clinical diagnosis can be made on inspection of the patient even immediately after birth. There is shortening of both upper and lower extremities, especially below the knees and elbows, with short stubby hands, polydactyly, and sometimes syndactyly. There is hypoplasia of the nails and sometimes of the hair. The teeth, if erupted, are usually dysplastic.
