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Pycnodysostosis - A Rare Case Report

DINESH DINESH

Abstract


Pycnodysostosis is a rare sclerosing
skeletal dysplasia, first described in 1962
by Maroteaux and Lamy. It is a genetic
disorder, usually diagnosed due to
pathological bone fractures .Short stature
, facial morphological characteristics,
certain radiological features aids in the
diagnosis. The head is usually large, the
nose beaked, the mandibular angle obtuse,
and both maxilla and mandible hypoplastic.
Dental abnormalities and impaction
are observed, as well as alterations
in eruption and frequent dental
crowding. The differential diagnosis includes
osteopetrosis, cleidocranial
dysplasia, Engelmans disease and idiopathic
acro-osteolysis. We report a case
of pycnodysostosis who presented as a
pathological fracture femur and review its
clinical and radiographic features with
the literature.
Keyword :Pycnodysostosis, pathological,
acro-osteolysis


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References


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