İlknur BODUR, Gonca YILMAZ, M. Melek OĞUZ, Can Demir KARACAN, Pelin ZORLU

Malign Osteopetrozisli Bir Olgu

Osteopetrozis kemik rezorpsiyon kusuru nedeniyle oluşan yaygın kemik sklerozuyla karekterize kalıtımsal bir hastalıktır. Osteopetrozisin malign formu infantlarda makrosefali, hepatosplenomegali, sağırlık, körlük ve ciddi anemiyle farkedilir. Hepatosplenomegali ve anemi nedeni araştırılırken malign osteopetrosiz tanısı alan hasta sunuldu.

Anahtar Kelimeler:

İnfant, Osteopetrozis, Osteosklerozis, Otozomal resesif

A Case with Malignant Osteopetrosis

Osteopetrosis is a hereditary disorder that is caused by a bone resorption defect and characterized with diffuse sclerosis of the bones. The severe form is detected in infancy because of macrocephaly, hepatosplenomegaly, deafness, blindness, and severe anemia. In this article we reported a case diagnosed as malign osteopetrosis while investigating the causes of anemia and hepatosplenomegaly

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