Osteopetrosis, a Rare Cause for Bone Marrow Failure
Osteopetrosis is a rare genetic disorder characterized by functional defect of osteoclasts resulting in failure of bone resorption, increased bone sclerosis and bone marrow failure. Patients present with stunted growth, skeletal changes, hepatosplenomegaly, features of pancytopenia and characteristic radiological changes. Osteopetrosis has variable inheritance pattern. Diagnosis is made on the basis of history with clinical findings, characteristic radiological and bone marrow findings. We present a case of a 10 years old female child with stunted growth, frontal bossing, teeth abnormalities and characteristic radiological and bone marrow findings.
This is an Open Access article distributed under the terms of the Creative Commons Attribution-Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.