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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Marble bone disease
Definitions
- Rare, heritable metabolic bone disease with defective bone remodeling, resulting in overproduction of immature bone
- Autosomal recessive osteopetrosis (AROP)
- Childhood severe form; malignant infantile osteoporosis
- Autosomal dominant osteopetrosis (ADOP), type 2
- Adult less severe form; Albers-Schönberg disease
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
- Ju H et al: Osteoblastic and hyperostotic craniofacial lesion detected by 99mTc-labeled methylene diphosphonate bone scintigraphy and single-photon emission computed tomography/computed tomography: a pictorial essay. Nucl Med Commun. 42(2):117-26, 2021
- Ganesh S et al: Ocular manifestations of Albers-Schoenberg disease (osteopetrosis). J Pediatr Ophthalmol Strabismus. 55(4):276, 2018
- Stattin EL et al: SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. Sci Rep. 7(1):3012, 2017
- Szymanski M et al: Osteopetrosis of the temporal bone treated with cochlear implant. J Int Adv Otol. 11(2):173-5, 2015
- Reddy Mh R: Osteopetrosis (marble bone disease): a rare disease in children. Int J Clin Pediatr Dent. 4(3):232-4, 2011
- 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
- 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
- Bollerslev J et al: Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone. 9(1):7-13, 1988
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Marble bone disease
Definitions
- Rare, heritable metabolic bone disease with defective bone remodeling, resulting in overproduction of immature bone
- Autosomal recessive osteopetrosis (AROP)
- Childhood severe form; malignant infantile osteoporosis
- Autosomal dominant osteopetrosis (ADOP), type 2
- Adult less severe form; Albers-Schönberg disease
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
- Ju H et al: Osteoblastic and hyperostotic craniofacial lesion detected by 99mTc-labeled methylene diphosphonate bone scintigraphy and single-photon emission computed tomography/computed tomography: a pictorial essay. Nucl Med Commun. 42(2):117-26, 2021
- Ganesh S et al: Ocular manifestations of Albers-Schoenberg disease (osteopetrosis). J Pediatr Ophthalmol Strabismus. 55(4):276, 2018
- Stattin EL et al: SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. Sci Rep. 7(1):3012, 2017
- Szymanski M et al: Osteopetrosis of the temporal bone treated with cochlear implant. J Int Adv Otol. 11(2):173-5, 2015
- Reddy Mh R: Osteopetrosis (marble bone disease): a rare disease in children. Int J Clin Pediatr Dent. 4(3):232-4, 2011
- 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
- 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
- Bollerslev J et al: Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone. 9(1):7-13, 1988
