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Case Report

BTDMJB. 2005; 1(2): 71-73

A seven year-old-girl with malignant osteopetrosis and accompanying Hirschsprung’s disease: Case report

Aysun Karadağ, Mehmet Cengiz, Serdar Öztora, Sami Hatipoğlu, Fatma Beyazal Çelikel.


Osteopetrosis is a congenital disease characterized by failure of leucocytes to form superoxydes and a defect in bone resorption. It has different classifications according to the type of inheritance, age, and symptoms of onset. Albers-Schönberg disease is classified into variants based on both the mode of inheritance and the clinical findings. The autosomal recessive malignant type is characterized by high mortality in early ages. The case has been reported since this patient represents a malignant type that survived till the age of seven and
accompanied by Hirschsprung’s disease

Key words: Osteopetrosis, long survival, Hirschsprung’s disease

Article Language: Turkish English

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