Pycnodysostosis

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Abstract
Two cases of a generalized osteodystrophy with associated anomalies in the skull and digits are described. This condition is a variant of osteopetrosis. Clinically the condition presents as stunting, a tendency to fracture easily or failure of the fontanelles or sutures to close. In addition the fingers are short and wrinkled because of the hypoplasia of the terminal phalanx. There is a genetic predisposition. The prognosis seems to be excellent from the knowledge available at the present time.