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.
About the Authors
E. L. Sahharovskaya
Federal Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
Moscow
P. Y. Stepensky
Hadassah Hebrew University Medical Center
Israel
Israel
Jerusalem
L. I. Rheingold
Hadassah Hebrew University Medical Center
Israel
Israel
Jerusalem
M. M. Dubrovin
Federal Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
Moscow
D. A. Ignatova
Russian Children Clinical Hospital
Russian Federation
Russian Federation
Moscow
A. Yu. Shcherbina
Federal Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
Moscow
I. B. Reznik
Federal Research Center of Pediatric Hematology, Oncology and Immunology; Hadassah Hebrew University Medical Center
Russian Federation
Russian Federation
Moscow
Israel
Jerusalem
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Review
For citations:
Sahharovskaya E.L., Stepensky P.Y., Rheingold L.I., Dubrovin M.M., Ignatova D.A., Shcherbina A.Yu., Reznik I.B. Clinical features of infantile (malignant) osteopetrosis. Oncohematology. 2010;(4):28-32. (In Russ.)
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