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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Marble bone disease, Albers-Schönberg disease
- OPTB: Autosomal recessive osteopetrosis (types 1-7)
- OPTA: Autosomal dominant osteopetrosis (types 1-2)
Definitions
- Rare heritable metabolic bone disease with defective bone remodeling resulting in overproduction of immature bone
- Autosomal recessive osteopetrosis (AROP): Childhood (malignant) form; severe osteopetrosis
- Autosomal dominant osteopetrosis (ADOP): Adult (benign) form; less severe osteopetrosis
- Rare heritable metabolic bone disease with defective bone remodeling resulting in overproduction of immature bone
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Turgut M et al: Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis. J Neurosurg Pediatr. 5(4):419-21, 2010
- Fotiadou A et al: Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease. Skeletal Radiol. 38(10):1015-21, 2009
- Del Fattore A et al: Genetics, pathogenesis and complications of osteopetrosis. Bone. 42(1):19-29, 2008
- Castellano Chiodo D et al: Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics. 38(3):154-6, 2007
- Bénichou O et al: Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. Am J Hum Genet. 69(3):647-54, 2001
- Curé JK et al: Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 21(6):1110-5, 2000
- Curé JK et al: Petrous carotid canal stenosis in malignant osteopetrosis: CT documentation with MR angiographic correlation. Radiology. 199(2):415-21, 1996
- Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
- Elster AD et al: Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain. Radiology. 183(1):137-44, 1992
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Marble bone disease, Albers-Schönberg disease
- OPTB: Autosomal recessive osteopetrosis (types 1-7)
- OPTA: Autosomal dominant osteopetrosis (types 1-2)
Definitions
- Rare heritable metabolic bone disease with defective bone remodeling resulting in overproduction of immature bone
- Autosomal recessive osteopetrosis (AROP): Childhood (malignant) form; severe osteopetrosis
- Autosomal dominant osteopetrosis (ADOP): Adult (benign) form; less severe osteopetrosis
- Rare heritable metabolic bone disease with defective bone remodeling resulting in overproduction of immature bone
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Turgut M et al: Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis. J Neurosurg Pediatr. 5(4):419-21, 2010
- Fotiadou A et al: Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease. Skeletal Radiol. 38(10):1015-21, 2009
- Del Fattore A et al: Genetics, pathogenesis and complications of osteopetrosis. Bone. 42(1):19-29, 2008
- Castellano Chiodo D et al: Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics. 38(3):154-6, 2007
- Bénichou O et al: Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. Am J Hum Genet. 69(3):647-54, 2001
- Curé JK et al: Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 21(6):1110-5, 2000
- Curé JK et al: Petrous carotid canal stenosis in malignant osteopetrosis: CT documentation with MR angiographic correlation. Radiology. 199(2):415-21, 1996
- Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
- Elster AD et al: Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain. Radiology. 183(1):137-44, 1992
