DefinePK

Abstract

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.