mar·ble bone disease (mär b l)n. See osteopetrosis. |
Marble Bone Disease
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 functions
Autosomal dominant form is MIM 166600
Lab Increased acid and alkaline phosphatases, decreased Ca2+, pancytopenia, defective T cell functions
marble bone disease
see osteopetrosis.
marble 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.
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