Orphanet Journal of Rare Diseases, 2009 Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but
Savarirayan Ravi, Stark Zornitza
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Integration of Digital Denture Technology in the Prosthodontic Management of Pediatric Osteopetrosis: A Case Report. [PDF]
Case Rep DentOsteopetrosis is a rare hereditary disorder characterized by impaired osteoclastic bone resorption, resulting in generalized skeletal sclerosis, increased bone fragility, and a heightened risk of complications such as osteomyelitis. Prosthodontic rehabilitation in pediatric patients is particularly challenging due to ongoing craniofacial growth ...
Niakou A +4 more
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Pediatric Dental Management of a Patient With Infantile Osteopetrosis in Remission: A Clinical Case Report. [PDF]
Case Rep DentBackground Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective osteoclast function. Its clinical presentation varies according to subtype, and oral manifestations are frequent, potentially serving as early indicators of the disease.
Cruz-Morera MA +2 more
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Pycnodysostosis With Papilledema and Isolated Low Parathyroid Hormone Levels in an Eight-Year-Old Girl: A Genetically Confirmed Case Report. [PDF]
Clin Case RepABSTRACT Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting from pathogenic variants in the CTSK gene, which encodes cathepsin K, a lysosomal cysteine protease expressed in osteoclasts. Deficiency of this enzyme leads to defective bone resorption and generalized osteosclerosis.
Kesineni MK +6 more
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Infantile or Malignant Osteopetrosis: Case Report of Two Siblings [PDF]
Journal of Clinical and Diagnostic Research, 2013 Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months ...
Tarakeswara Rao P. +3 more
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A positive correlation between osteopetrosis and genetic disorder of CA II, TCIRG1, SNX10, CLCN7 genes and importance of CRISPR (Cas 9) in gene therapy: A review [PDF]
Egyptian Journal of Cancer and Biomedical ResearchOsteopetrosis can be defined as a group of uncommon skeletal disorders that are genetically and clinically eterogeneous, often stemming from family history. In osteopetrosis, abnormal osteoclast function disrupts bone homeostasis.
Zainab Zamil Allami +3 more
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A case of infantile osteopetrosis: The radioclinical features with literature update
Bone Reports, 2016 Background: Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling.
Tamer Ahmed EL-Sobky +4 more
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Clinical, genetic aspects and molecular pathogenesis of osteopetrosis
Вавиловский журнал генетики и селекции, 2023 Osteopetrosis (“marble bone”, ICD-10-78.2) includes a group of hereditary bone disorders distinguished by clinical variability and genetic heterogeneity.
D. D. Nadyrshina, R. I. Khusainova
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CRISPR/Cas9-Mediated Gene Correction in Osteopetrosis Patient-Derived iPSCs
Frontiers in Bioscience-Landmark, 2023 Background: Osteopetrosis represents a rare genetic disease with a wide range of clinical and genetic heterogeneity, which results from osteoclast failure. Although up to 10 genes have been identified to be related with osteopetrosis, the pathogenesis of
Dandan Li +11 more
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