marble bone disease
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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