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
doaj +2 more sources
Treatment of osteopetrosis combined with fracture around femoral internal fixation: a case report. [PDF]
Front SurgXu X, Li T.
europepmc +3 more sources
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
doaj +2 more sources
Subtrochanteric Femur Fracture in Osteopetrosis With Multiple Previous Fractures: A Case Report on Surgical Challenges and Outcome. [PDF]
Clin Case RepABSTRACT Subtrochanteric femoral fractures in autosomal dominant osteopetrosis are difficult to manage due to absent medullary canal, sclerotic bone, poor fracture healing and remodeling. Surgical fixation demands meticulous preoperative planning and intraoperative strategies.
Bist O +5 more
europepmc +2 more sources
Diffuse Osteosclerosis in a Young Cat Presenting With Chronic Nasal Congestion: A Case Report. [PDF]
Vet Med SciChronic upper airway congestion is a common presenting complaint in feline patients. This report describes the imaging findings in a cat in which upper airway signs were due in part to a systemic bone pathology that was also leading to decreased mobility. Computed tomography (CT) revealed diffuse osteosclerosis.
Lopez-Aldazabal V +2 more
europepmc +2 more sources
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
doaj +1 more source
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
doaj +1 more source
Radiological features of malignant osteopetrosis at early and late stages of disease
Онкогематология, 2014 Infantile form of osteopetrosis (malignant osteopetrosis) is the most severe form of the disease. Specific radiological signs allow to suspect andconfirm the diagnosis. We analyzed the data of 17 patients with infantile osteopetrosis.
E. L. Sakharovskaya +4 more
doaj +3 more sources
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
doaj +1 more source
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
doaj +1 more source