Clinical features of infantile (malignant) osteopetrosis

Abstract

Osteopetrosis (“Marble disease”) – is a group of diseases characterized by inability of osteoclasts to resorb the osteal tissue that leads to increased bone fragility, despite density increase. Analysis of data of 27 patients with infantile (malignant) autosomal recessive osteopetrosis (ARO) (21 boys and 6 girls) allowed to describe and summarize the basic clinical features: hematopoiesis suppression, liver and spleen enlargement, vision and hearing failure, delay of psychomotor development, other neurological symptoms, specific radiological bone changes.

Keywords

• osteopetrosis
• marble disease
• clinical features
• differential diagnosis