Denouement and Discussion
Ellisvan Creveld Syndrome
Dwarfism, with shortening of extremities (most striking in the distal portions of the limbs), ectodermal defects involving hair, teeth, and nails, polydactyly, and congenital heart defects constitute the major findings.
Dwarfism is apparent at birth with shortening more striking in the distal than the proximal portions. At birth, the weight is normal although the length may be short. The hands are short and polydactyly is frequently present. The nails of the hands and feet are dystrophic although they may at first appear normal. The cranial vault is usually of normal size and the trunk is normal in length. There may be limitation of extension at the elbows, genu valgum, and rib and sternal abnormalities.The hair is sparse, fine, and silky or entirely absent. The teeth are peg-shaped and may have wide spaces between them. A number of