marble bone disease

(redirected from Malignant Osteopetrosis)
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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.
[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 functions

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.

marble bone disease

References in periodicals archive ?
The loci of malignant osteopetrosis should fall on a homozygous chromosomal region because the parents are consanguineous.
Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis.
Actimmune is currently marketed in the United States by InterMune for the treatment of two rare congenital diseases, chronic granulomatous disease and severe, malignant osteopetrosis.
Boehringer Ingelheim and InterMune plan to immediately seek expedited EU approvals for Imukin(R) for the treatment of severe, malignant osteopetrosis, an indication for which ACTIMMUNE(R) is already approved in the United States.
InterMune currently markets ACTIMMUNE(R) (Interferon gamma-1b) Injection in the United States for the treatment of chronic granulomatous disease (CGD) and severe, malignant osteopetrosis and is in Phase III clinical trials for the treatment of idiopathic pulmonary fibrosis (IPF) and multidrug-resistant tuberculosis (MDR TB).
DISCUSSION: As the patient was not young and the changes were not aggressive, the condition is not a malignant osteopetrosis.
Recalcitrant osteomyelitis following tooth extraction in a case of malignant osteopetrosis.
Infantile malignant osteopetrosis (arOP; ARO; OMIM 259700) is an autosomal recessive disease manifesting with anaemia, thrombocytopenia, hepatosplenomegaly, visual impairment due to optic atrophy and deafness.
ACTIMMUNE(R) is currently marketed in the United States for CGD and severe, malignant osteopetrosis.
Typically, these patients have short stature and experience some of the more aggressive features of malignant osteopetrosis.
The Autosomal recessive variety also known as congenital or infantile or malignant Osteopetrosis occurs in infancy and has a rapid downhill course due to severe bone marrow failure.

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