Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern.

ABSTRACT: In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia; and nerve entrapment accounts for progressive blindness and hearing loss. Severe infantile or malignant osteopetrosis is the worst type of the disease which has poor prognosis. In this study we report two cases of severe infantile or malignant type of the disease in an Iranian family. Our two patients were children of a family where the wife is a grandchild of the husband's aunt. The first patient had episodes of seizure and spastic

SUBMITTER: Morovvati S 

PROVIDER: S-EPMC3920503 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature