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Marble bone disease and the Anaesthesiologist
Indian Journal of Anaesthesia, 2015 Sir, Osteopetrosis is an uncommon genetic disease encountered by anaesthesiologists and is rarely reported.[1] The various associated anatomical and physiological alterations are challenging. We report the successful management of a 35-year-old female with the condition, scheduled for revision surgery for malunion of femur under combined spinal ...
Ashima Sharma +3 more
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Marble Bone Disease: A Rare Bone Disorder. [PDF]
Cureus, 2015 Osteopetrosis, or marble bone disease, is a rare skeletal disorder due to a defective function of the osteoclasts. This defect renders bones more susceptible to osteomyelitis due to decreased vascularity. This disorder is inherited as autosomal dominant and autosomal recessive.
Arumugam E +3 more
europepmc +5 more sources
Case report of LCP pediatric hip osteosynthesis of a proximal femoral fracture in a child with marble bone disease [PDF]
The Pan African Medical Journal, 2013 We present a case report demonstrating the experience of the department of pediatric orthopaedics of the University Orthopedic Hospital at Sofia Medical University in the treatment of an intertrochanteric proximal femoral fracture in a child with ...
Hristo Georgiev, Venelin A Alexiev
doaj +3 more sources
Prosthetic Rehabilitation in Marble Bone Disease. [PDF]
Int J Clin Pediatr Dent, 2010 Osteopetrosis is a rare metabolic disease.(1) Dental abnormalities may be attributed to the pathological changes in osteopetrosis. Patients with osteopetrosis are especially susceptible to osteomyelitis of mandible.(1) A 13-year-old girl presented with complaint of jaw swelling on left side. The radiograph of left mandible (lateral oblique view) showed
Rehani U +5 more
europepmc +3 more sources
Bone Scan and SPECT/CT Findings in Marble Bone Disease. [PDF]
Nucl Med Mol Imaging, 2013 Marble bone disease or osteopetrosis (OS), is a rare inborn disorder characterized by the failure of osteoclasts to resorb bone [1]. Overall incidence of the disease is estimated to be 1 case in 100,000-500,000 population [2]. Whereas the radiographic features of the disease are well known, information on bone scan imaging is sparse in the literature ...
Kapoor J, Joshi P, Lele V.
europepmc +4 more sources
Osteopetrosis (Marble Bone Disease): A Rare Disease in Children. [PDF]
Int J Clin Pediatr Dent, 2011 Osteopetrosis is a group of diseases that affects the growth and remodeling of bone and characterized by over growth and sclerosis of bone, with thickening of the bony cortices, abnormal dental development and narrowing of the marrow cavities throughout the skeleton. It is an uncommon disease of unknown cause.
Reddy Mh R.
europepmc +3 more sources
Osteopetrosis (marble bone disease)
Современная ревматология, 2014 We report the data of the history of describing osteopetrosis (marble bone disease), its clinical features, diagnosis, and possible therapy approaches. Our own clinical case is presented.
Alexey Nikolayevich Kalyagin +5 more
doaj +3 more sources
Identification of a novel mutation in the CLCN7 gene in pediatric osteopetrosis: case report [PDF]
Frontiers in PediatricsOsteopetrosis, also known as osteosclerosis and marble-bone disease, is a rare genetic metabolic bone disorder caused by the dysplasia or dysfunction of osteoclasts, usually caused by variants of chloride voltage-gated channel 7 (CLCN7) gene.
Aoshuang Jiang +6 more
doaj +2 more sources
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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