Pycnodysostosis with recurrent long bone fractures
DOI:
https://doi.org/10.18203/issn.2455-4510.IntJResOrthop20195819Keywords:
Pycnodysostosis, Pathological fractures, Proximal femoral nailAbstract
Pycnodysostosis is a rare autosomal recessive sclerosing bone disorder characterized by generalized diffuse osteosclerosis. Patients usually have a large head with separated sutures, open fontanels, aplasia of frontal sinuses, obtuse mandibular gonial angle and acroosteolysis of distal phalanges and multiple long bone fractures. We report this case of a 30-year-old female with repeated multiple long bone fractures and other clinico-radiological pathognomonic features of pycnodysostosis.
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