Results 11 to 20 of about 10,613 (196)
Osteopetrosis complicated by multilevel spondylolysis
Radiology Case ReportsOsteopetrosis is a heterogenous group of inheritable disorders which manifests as increased bone density and brittleness. The most common and mildest variant typically presents in adulthood with bone pain and pathologic fractures, including spondylolysis.
William W. Pryor, III, MD +2 more
doaj +2 more sources
Osteomyelitis of the Mandible Secondary to Osteopetrosis: A Case Report [PDF]
Turkish Archives of Otorhinolaryngology, 2013 Osteopetrosis is a rare genetic bone dysplasia that develops secondary to defective activity of osteoclasts in bone resorption and remodelling functions.
Mehmet Durmuşoğlu +3 more
doaj +2 more sources
New England Journal of Medicine, 2017 Osteopetrosis, classification and ...
Udayshankar, Yaga, Prashanth, Panta
core +6 more sources
Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
Case Reports in Genetics, 2021 Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones.
Parminder Kaur +4 more
doaj +2 more sources
Osteopetrosis: Report of a rare case
Journal of Indian Academy of Oral Medicine and Radiology, 2012 Osteopetrosis is a rare genetic disorder that causes generalized sclerosis of bone due to a defect in bone resorption and remodeling. Osteomyelitis is well documented as a complication of osteopetrosis.
Nabikhan Ahmedkhan Athani +3 more
doaj +1 more source
OSTEOPETROSIS AND ENDOPROSTHETICS - CLINICAL OBSERVATIONS [PDF]
Наука и инновации в медицине, 2017 Aim - to evaluate the efficacy of treatment of secondary arthrosis of the coxofemoral joints associated with osteopetrosis using arthroplasty. Materials and methods - clinical observation of two cases of treatment of patients with autosomal dominant form
NS S Nikolaev +5 more
doaj +2 more sources
Brain Abscess in a Patient with Osteopetrosis: A Rare Complication [PDF]
, 2021 Brain abscess formation is extremely rare in patients with osteopetrosis. Herein, we report a case of viridans streptococci brain abscess in an immunocompromised child diagnosed with osteopetrosis.
Gürkan Bozan +7 more
core +1 more source
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
Intermediate Osteopetrosis with Hooked-Shaped Phalanges
Journal of Indian Academy of Oral Medicine and RadiologyOsteopetrosis is a bone condition caused by an abnormality in the function of osteoclasts. The absence of normal osteoclasts results in aberrant primary skeleton development and subsequent pathological bone turnover. When a blind patient presented to the
Sangeeta Malik +3 more
doaj +2 more sources
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