PYCNODYSOSTOSIS

Abstract
Pycnodysostosis is a well defined but rare syndrome characterized by dwarfism, dense bones, characteristic multiple skeletal anomalies, a tendency for spontaneous fracture, a recessive mode of inheritance, and a good prognosis. The condition should be differentiated from osteopetrosis with which it is likely to be confused.The case of a 2½ year old girl, who has shown most of the features of this syndrome, is reported. Yellowish discoloration of the milk teeth appears to be a finding not reported before.Only 36 cases have been reported in the literature, this being the first case from India.

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