PYCNODYSOSTOSIS
- 1 February 1972
- journal article
- case report
- Published by American Roentgen Ray Society in American Journal of Roentgenology
- Vol. 114 (2) , 247-252
- https://doi.org/10.2214/ajr.114.2.247
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.Keywords
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