Publication:

Pycnodysostosis with recurrent long bone fractures

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.