Pycnodysostosis. A case report.

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Abstract
In 1962, Maroteaux and Lamy described a variant of osteopetrosis, as pycnodysostosis, which is characterized by short stature, generalized increased bone density on roentgenograms, dysplasia of the skull and clavicles, obtuse mandibular angle and aplasia (partial or total) of the terminal phalanges. This patient is a further example of this rare syndrome.

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