Pycnodysostosis with recurrent long bone fractures

Naba Pallab Chetia, Aswin Deepak Rajan, Himashis Medhi
2019 International Journal of Research in Orthopaedics  
<p class="abstract">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.</p>
doi:10.18203/issn.2455-4510.intjresorthop20195819 fatcat:so7iubaznvb5baymdy5hjkbsze