marble bone disease(redirected from Malignant Osteopetrosis)
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Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy, to bone fragility, and to progressive deafness and blindness; autosomal dominant inheritance. There are also autosomal recessive forms, which may be mild [MIM*259710], severe [MIM*259700], or lethal [MIM*259720], and sometimes involve a renal tubular defect [MIM*259730]. A milder, autosomal dominant form has onset in childhood and no neurologic sequelae.
[osteo- + G. petra, stone, + -osis, condition]
marble bone disease(mär′bəl)
Autosomal dominant form is MIM 166600
Lab Increased acid and alkaline phosphatases, decreased Ca2+, pancytopenia, defective T cell functions
marble bone diseaseAlbers-Schönberg disease, malignant osteopetrosis An AR form of early onset osteopetrosis with FTT, bone fragility, multiple Fx, osteomyelitis and other infections, proptosis, blindness, deafness and hydrocephalus due to bony overgrowth of cranial foramina; replacement of BM evokes extramedullary hematopoiesis in liver and spleen, hepatosplenomegaly Lab ↑ acid and alk phosphatases, ↓ Ca2+, pancytopenia, defective T cell functions. See Osteopetrosis.
diseasepathogenic entity characterized by an identifiable aetiological agent, group of signs and symptoms and/or consistent anatomical alterations; see syndrome
Albers-SchÖnberg disease; osteopetrosis; marble bone disease rare autosomal-recessive condition presenting in infancy and characterized by increased bone density, cartilage calcification, obliteration of marrow spaces, anaemia, splenomegaly, progressive deafness and blindness
marble bone disease