Bookmarks
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Marble bone disease
Definitions
- Heterogeneous grouping of hereditary osteoclast disorders
- Multiple autosomal dominant and recessive forms
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Gómez Varela C et al: Radiological findings in autosomal recessive infantile osteopetrosis. Reumatol Clin. 15(6):e153-5, 2019
- Ahmadpour A et al: Cervical spine fractures in osteopetrosis: a case report and review of the literature. J Biomed Res. 32(1):68-76, 2018
- Rathod AK et al: Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management. Eur Spine J. 26(Suppl 1):229-35, 2017
- Shigenobu K et al: Rugger-jersey spine in osteopetrosis. BMJ Case Rep. 2017:bcr2017220275, 2017
- Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
- Mohapatra B et al: Multiple lumbar pedicle fractures in osteopetrosis: a case report. Spine (Phila Pa 1976). 35(8):E311-5, 2010
- Martin D et al: Infantile osteopetrosis on head CT. Pediatr Radiol. 39(3):308, 2009
- Saluja S et al: Osteopetrosis: a rare cause of anemia--review of literature. Indian J Pathol Microbiol. 52(3):363-7, 2009
- Askmyr MK et al: Towards a better understanding and new therapeutics of osteopetrosis. Br J Haematol. 140(6):597-609, 2008
- 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
- Kocher MS et al: Osteopetrosis. Am J Orthop. 32(5):222-8, 2003
- Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 29(2):87-97, 2003
- Senel K et al: Type II autosomal dominant osteopetrosis. Rheumatol Int. 22(3):116-8, 2002
- Stoker DJ: Osteopetrosis. Semin Musculoskelet Radiol. 6(4):299-305, 2002
- Cheow HK et al: Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation. Pediatr Radiol. 31(12):869-75, 2001
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
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Marble bone disease
Definitions
- Heterogeneous grouping of hereditary osteoclast disorders
- Multiple autosomal dominant and recessive forms
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Gómez Varela C et al: Radiological findings in autosomal recessive infantile osteopetrosis. Reumatol Clin. 15(6):e153-5, 2019
- Ahmadpour A et al: Cervical spine fractures in osteopetrosis: a case report and review of the literature. J Biomed Res. 32(1):68-76, 2018
- Rathod AK et al: Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management. Eur Spine J. 26(Suppl 1):229-35, 2017
- Shigenobu K et al: Rugger-jersey spine in osteopetrosis. BMJ Case Rep. 2017:bcr2017220275, 2017
- Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
- Mohapatra B et al: Multiple lumbar pedicle fractures in osteopetrosis: a case report. Spine (Phila Pa 1976). 35(8):E311-5, 2010
- Martin D et al: Infantile osteopetrosis on head CT. Pediatr Radiol. 39(3):308, 2009
- Saluja S et al: Osteopetrosis: a rare cause of anemia--review of literature. Indian J Pathol Microbiol. 52(3):363-7, 2009
- Askmyr MK et al: Towards a better understanding and new therapeutics of osteopetrosis. Br J Haematol. 140(6):597-609, 2008
- 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
- Kocher MS et al: Osteopetrosis. Am J Orthop. 32(5):222-8, 2003
- Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 29(2):87-97, 2003
- Senel K et al: Type II autosomal dominant osteopetrosis. Rheumatol Int. 22(3):116-8, 2002
- Stoker DJ: Osteopetrosis. Semin Musculoskelet Radiol. 6(4):299-305, 2002
- Cheow HK et al: Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation. Pediatr Radiol. 31(12):869-75, 2001
