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DictionarySeeosteopetrosismarble bone disease
marble bone disease[′mär·bəl ¦bōn di‚zēz] (medicine) osteopetrosis marble bone disease
os·te·o·pe·tro·sis (os'tē-ō-pe-trō'sis), [MIM*166600] 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. Synonym(s): Albers-Schönberg disease, marble bone disease, marble bones [osteo- + G. petra, stone, + -osis, condition] marble bone disease (mär′bəl)n. See osteopetrosis.An autosomal recessive form [MIM259700] of early onset osteopetrosis with failure to thrive, bone fragility, multiple fractures, osteomyelitis and other infections, proptosis, blindness, deafness and hydrocephalus due to bony overgrowth of cranial foramina; replacement of bone marrow evokes extramedullary haematopoiesis in the liver and spleen, causing hepatosplenomegaly
Autosomal dominant form is MIM 166600
Lab Increased acid and alkaline phosphatases, decreased Ca2+, pancytopenia, defective T cell functionsmarble bone disease Albers-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. |