Results 1 to 10 of about 8,359 (169)
Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review
Current Issues in Molecular Biology, 2023 Osteopetrosis is a rare hereditary illness generated by failure in osteoclasts resulting in elevated bone densities. Patients with osteopetrosis possess several complications, like dental caries, earlier teeth loss, delayed eruption, malformed crowns and
Ameera Gaafar +2 more
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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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Can transient neonatal osteosclerosis be differentiated from malignant infantile osteopetrosis? [PDF]
Bone ReportsOsteosclerosis in infancy requires careful evaluation as it may indicate the presence of osteopetrosis. Osteopetrosis is a rare disorder of high bone density due to impaired osteoclast resorption.
Sarah A. Ackah +10 more
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The orthopaedic management of osteopetrosis in paediatric populations: a narrative review of the literature [PDF]
Frontiers in PediatricsOsteopetrosis is a heterogeneous group of inherited bone disorders, where increased bone density and brittleness are associated with pathological fractures and osseous deformities.
Antoine Chemtob +7 more
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Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons. [PDF]
Adv Genet (Hoboken)This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Jones C, Jayasuriya AC.
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Osteopetrosis: A Rare Cause of Anemia
Hematology Reports, 2011 Normocytic anaemia is caused either by hypoproliferation of haemopoietic tissue or increased destruction of red cells. Osteopetrosis is a rare cause of anaemia.
Sreekala Sreehari +2 more
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Multiple revision surgeries after total hip arthroplasty in a patient with osteopetrosis: a case report with 24 years of follow-up [PDF]
BMC Musculoskeletal DisordersOsteopetrosis, also recognized as marble bone disease, denotes a rare hereditary skeletal condition. It is distinguished by faulty osteoclast resorption, resulting in universally rigid and brittle bones. Secondary osteoarthritis often occurs in young and
Wenkang Ling, Wei He, Leilei Chen
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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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Bone ResearchOsteopetrosis is an inherited metabolic disease, characterized by increased bone density and narrow marrow cavity. Patients with severe osteopetrosis exhibit abnormal bone brittleness, anemia, and infection complications, which commonly cause death ...
Lu Tingwei, Lei Shen, Lingyong Jiang
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