Variable degrees of growth retardation, hypocalcemia, hematological & visual impairment, other CNS symptoms
IMAGING
General Features
CT Findings
MR Findings
Ultrasonographic Findings
Angiographic Findings
Nuclear Medicine Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Boulet C et al: Sclerosing bone dysplasias: genetic, clinical, and radiology update of hereditary and non-heriditary disorders. Br J Radiol. 20150349, 2016
Simanovsky N et al: Extending the spectrum of radiological findings in patients with severe osteopetrosis and different genetic backgrounds. Pediatr Blood Cancer. 63(7):1222-6, 2016
Hashemi Taheri AP et al: Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation. Pediatr Blood Cancer. 62(9):1645-9, 2015
Orchard PJ et al: Hematopoietic stem cell transplantation for infantile osteopetrosis. Blood. 126(2):270-6, 2015
Saigal A et al: Recurrent osteomyelitis of the mandible in osteopetrosis: a common complication of an uncommon disease. BMJ Case Rep. 2015, 2015
Zheng LC et al: 99Tcm-MDP imaging of osteopetrosis: case report. Medicine (Baltimore). 94(22):e929, 2015
Aggarwal S: Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century. Gene. 528(1):41-5, 2013
Bollerslev J et al: Autosomal dominant osteopetrosis revisited: lessons from recent studies. Eur J Endocrinol. 169(2):R39-57, 2013
Gonen KA et al: Infantile osteopetrosis with superimposed rickets. Pediatr Radiol. 43(2):189-95, 2013
Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
Driessen GJ et al: Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant. 32(7):657-63, 2003
Whyte MP et al: Bisphosphonate-induced osteopetrosis. N Engl J Med. 349(5):457-63, 2003
Cleiren E et al: Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 10(25):2861-7, 2001
Gerritsen EJ et al: Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics. 93(2):247-53, 1994
Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 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
TERMINOLOGY
Synonyms
Marble bone disease
Definitions
Heterogeneous group of genetic disorders characterized by ↑ bone density due to impaired bone resorption by osteoclasts
Osteopetrosis, autosomal dominant type 1 (ADO1)
Not true osteopetrosis (mechanism poorly understood)
LRP5 mutation → high bone mass
Universal osteosclerosis but marked at cranial vault while spine almost unaffected
Variable degrees of growth retardation, hypocalcemia, hematological & visual impairment, other CNS symptoms
IMAGING
General Features
CT Findings
MR Findings
Ultrasonographic Findings
Angiographic Findings
Nuclear Medicine Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Boulet C et al: Sclerosing bone dysplasias: genetic, clinical, and radiology update of hereditary and non-heriditary disorders. Br J Radiol. 20150349, 2016
Simanovsky N et al: Extending the spectrum of radiological findings in patients with severe osteopetrosis and different genetic backgrounds. Pediatr Blood Cancer. 63(7):1222-6, 2016
Hashemi Taheri AP et al: Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation. Pediatr Blood Cancer. 62(9):1645-9, 2015
Orchard PJ et al: Hematopoietic stem cell transplantation for infantile osteopetrosis. Blood. 126(2):270-6, 2015
Saigal A et al: Recurrent osteomyelitis of the mandible in osteopetrosis: a common complication of an uncommon disease. BMJ Case Rep. 2015, 2015
Zheng LC et al: 99Tcm-MDP imaging of osteopetrosis: case report. Medicine (Baltimore). 94(22):e929, 2015
Aggarwal S: Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century. Gene. 528(1):41-5, 2013
Bollerslev J et al: Autosomal dominant osteopetrosis revisited: lessons from recent studies. Eur J Endocrinol. 169(2):R39-57, 2013
Gonen KA et al: Infantile osteopetrosis with superimposed rickets. Pediatr Radiol. 43(2):189-95, 2013
Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
Driessen GJ et al: Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant. 32(7):657-63, 2003
Whyte MP et al: Bisphosphonate-induced osteopetrosis. N Engl J Med. 349(5):457-63, 2003
Cleiren E et al: Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 10(25):2861-7, 2001
Gerritsen EJ et al: Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics. 93(2):247-53, 1994
Elster AD et al: Autosomal recessive osteopetrosis: bone marrow imaging. Radiology. 182(2):507-14, 1992
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