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Spine
Diagnosis
Congenital and Genetic Disorders
Congenital
Genetic Disorders
Osteopetrosis
Osteopetrosis
Kevin R. Moore, MD
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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
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