Osteopetrosis, literally 'stone bone', also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby...
26 KB (2,742 words) - 19:55, 23 August 2024
Malignant infantile osteopetrosis is a rare osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique...
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Renal tubular acidosis (redirect from Osteopetrosis renal tubular acidosis)
encoding this enzyme give rise to an autosomal recessive syndrome of osteopetrosis, renal tubular acidosis, cerebral calcification, and mental retardation...
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Osteogenesis imperfecta (redirect from Osteopetrosis tarda)
Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic...
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V-ATPase (section Osteopetrosis)
form of osteopetrosis is termed autosomal recessive infantile malignant osteopetrosis. Three genes that are responsible for recessive osteopetrosis in humans...
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which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial...
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needed] Lipoproteinlipase deficiency Multiple sulfatase deficiency Osteopetrosis Adult-onset Still's disease (AOSD) medcyclopaedia: Hepatosplenomegaly...
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Interferon gamma is used to treat chronic granulomatous disease and osteopetrosis Adipokines Apoptosis Cytokine redundancy Cytokine release syndrome Cytokine...
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Malignant infantile osteopetrosis Neuropathic infantile osteopetrosis Infantile osteopetrosis with renal tubular acidosis Infantile osteopetrosis with immunodeficiency...
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noticeable osteocyte on the femur, likely Paget's disease of bone, and osteopetrosis, thickening of the bone, likely resulting from skeletal fluorosis caused...
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Toulouse-Lautrec Syndrome), or a variant disorder along the lines of osteopetrosis, achondroplasia, or osteogenesis imperfecta. Toulouse-Lautrec's legs...
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associated with increase in osteoid maturation time.[citation needed] Osteopetrosis McKee, MD; Buss, DJ; Reznikov, N (13 December 2021). "Mineral tessellation...
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recessive Osteoporosis pseudoglioma syndrome LRP5 Autosomal recessive Osteopetrosis TCIRGI Autosomal recessive Camurati-Engelmann disease TGFβ-1 Autosomal...
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(an excessive growth of bone) (such as craniometaphyseal dysplasia, osteopetrosis). Another pathophysiological mechanism by which Chiari malformations...
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Osteopenia unaffected unaffected normal unaffected decreased bone mass Osteopetrosis unaffected unaffected elevated unaffected [citation needed] thick dense...
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steroids Diagnostic method Medical imaging, biopsy Differential diagnosis Osteopetrosis, rheumatoid arthritis, Legg–Calvé–Perthes syndrome, sickle cell disease...
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groups, each accounting for less than 0.5% of the total population. Osteopetrosis affects 1 newborn out of every 20,000 to 250,000 worldwide, but the...
44 KB (3,643 words) - 13:34, 13 September 2024
essential in osteoclastogenesis. RANKL knockout mice exhibit a phenotype of osteopetrosis and defects of tooth eruption, along with an absence or deficiency of...
26 KB (2,918 words) - 00:49, 26 August 2024
Nganasan-like Siberian component is typical for Uralic-speaking groups. Osteopetrosis affects 1 newborn out of every 20,000 to 250,000 worldwide, but the...
22 KB (2,291 words) - 02:30, 14 September 2024
syndrome Autosomal dominant Kenny-Caffey syndrome Autosomal recessive osteopetrosis Axenfeld-Rieger anomaly B4GALT1-congenital disorder of glycosylation...
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aleukia Copper deficiency Pernicious anemia Medication Hypersplenism Osteopetrosis Organic acidurias (Propionic Acidemia, Methylmalonic Aciduria, Isovaleric...
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forelock Osteopetrosis autosomal dominant type 1 Osteopetrosis lethal Osteopetrosis renal tubular acidosis Osteopetrosis, (generic term) Osteopetrosis, malignant...
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in the foot, possibly due to osteoarthritis or developmental issues Osteopetrosis along the endosteal surface of a tibia. Distortions of the joint surfaces...
132 KB (14,954 words) - 18:53, 28 September 2024
diseases and hereditary skeletal dysplasias; notably malignant infantile osteopetrosis and mucopolysaccharidosis. "hematopoietic system". Merriam-Webster....
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Bridavsky first picked her up, he said "Hey, Bub!" Lil Bub suffered from osteopetrosis for which she received medication. In late 2012, during the filming...
26 KB (2,168 words) - 18:45, 11 September 2024
diseases and hereditary skeletal dysplasias; notably malignant infantile osteopetrosis and mucopolysaccharidosis. Stem cells can be used to regenerate different...
38 KB (4,500 words) - 05:53, 17 August 2024
Autosomal recessive multiple pterygium syndrome Autosomal recessive osteopetrosis 5 Autosomal recessive Robinow syndrome Autosomal recessive spastic paraplegia...
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tumor) Osteogenesis imperfecta Osteomalacia Osteomyelitis Osteopenia Osteopetrosis Osteoporosis Porotic hyperostosis Primary hyperparathyroidism Renal...
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also referred to as Brittle Bone Disease Osteoporosis Osteomyelitis Osteopetrosis Osteopenia Recent orthopedic surgery A recent failed attempt at device...
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imperfecta Osteomalacia Rickets Renal osteodystrophy Malignant infantile osteopetrosis juvenile osteoporosis juvenile rheumatoid arthritis Monostotic fibrous...
6 KB (602 words) - 04:26, 2 August 2024