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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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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Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers [PDF]
Frontiers in EndocrinologyObjectiveCLCN7 mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, CLCN7 mutations can lead to severe or relatively benign forms of osteopetrosis.
Xi Chen +9 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 ...
Lei Shen +2 more
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Total shoulder arthroplasty in a patient with osteopetrosis: A case report [PDF]
Radiology Case ReportsOsteopetrosis is a rare genetic disorder that leads to increased bone density and fragility due to dysfunctional osteoclasts, which can result in narrowed bone marrow spaces, hardened cartilage, and brittle bones.
Ryan C. Rizk, MS +6 more
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A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family [PDF]
BMC Medical GenomicsOsteopetrosis, a group of highly heterogeneous genetic bone disorders, is characterized by deafness, increased bone density, hepatosplenomegaly, pancytopenia and intellectual disability.
Mengxiao Liu +8 more
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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
Zikra Alkhayal +3 more
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Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea [PDF]
Neonatal Medicine, 2021 Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical ...
Yun Kyo Oh +7 more
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Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants
BMC Medical Genomics, 2021 Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns.
Chunyu Liu +11 more
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