Autosomal Recessive Osteopetrosis: Variability of Findings at Diagnosis and During the Natural Course.

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Retrospective and longitudinal evaluation of clinical symptoms and natural course with emphasis on survival and sensoneurologic and hematologic findings.


Two large referral-based pediatric bone marrow transplantation units in Europe.


Thirty-three patients with autosomal recessive osteopetrosis admitted to units in Paris and Leiden between 1972 and 1988 were analyzed until last follow-up or the time at which bone marrow transplantation was performed. The great number of patients and unprecedented amount of data make this report one of the single largest clinical studies on autosomal recessive osteopetrosis.


Autosomal recessive osteopetrosis seems to be a variable disorder with a poor prognosis, especially in children with early visual and hematologic impairment. Allogeneic bone marrow transplantation remains the only curative approach. Pediatrics 1994;93:247-253; autosomal recessive osteopetrosis, bone marrow transplantation, visual impairment, hematologic impairment.

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