osteopetrosis


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Related to osteopetrosis: osteogenesis imperfecta

osteopetrosis

[¦äs·tē·ō·pə′rō·səs]
(medicine)
A rare developmental error of unknown cause but of familial tendency, characterized chiefly by excessive radiographic density of most or all of the bones. Also known as marble bone disease.
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28) and Mutation taster (prediction: disease causing) lead us to infer this alteration as a pathogenic variant/mutation that can cause osteopetrosis.
Pathogenesis of osteopetrosis in the rat: reduced bone resorption due to reduced osteoclast function.
Infantile osteopetrosis is a rare, life-threatening condition.
Marble bone disease: a review of osteopetrosis and its oral health implications for dentists.
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
Osteopetrosis is a rare hereditary condition characterized by an increase in bone density.
Osteopetrosis Hyper/Hypoparathyroidism Sclerosing Spondylosis Radiation Exposure Cushing's Syndrome Rickets (Healing) Avascular Necrosis Osteoporosis Congenital Syphilis Paget's Disease Leukemia Nutritional Deficiency Scurvy Fractures (Healing) Childhood Stress Infection
Though osteopetrosis is not common in cattle, it has been reported in Hereford, Simmental, Holstein, and Angus breeds in the past, Smith says.
Ectodermal dysplasia with immunodeficiency (EDID) and ectodermal dysplasia with immunodeficiency, osteopetrosis and lymphedema (OL-ED-ID) are allelic to IP as both are caused by mutation in the same gene (NEMO) (5).
El balance entre la actividad de estos dos grupos celulares determina las condiciones del tejido oseo; asi, un aumento en la actividad osteoblastica en relacion con la osteoclastica permite un aumento en la masa osea, que en condiciones patologicas puede llevar a Osteopetrosis.
Osteopetrosis (OP) is a rare heterogeneous group of inherited skeletal dysplasias characterised by osteoclast dysfunction, impaired bone resorption and poor bone remodelling.
Medics have been carrying out emergency clinics across the Midlands in the search for a suitable bone marrow match for nine-month-old Alishba, who has the rare hereditary bone disorder malignant infantile osteopetrosis.