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
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
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
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
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