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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The molecular analysis of genes TCIRG1, CLCN7, OSTM1, that are responsible for approximately 70% of autosomal recessive osteopetrosis cases, was performed by amplification and sequencing of all exons and intron-exon boundaries.
Osteopetrosis is a rare clinically and genetically heterogeneous group of inherited disorders characterized by a marked increase in bone density.
Our initial diagnosis was congenitally acquired infection (TORCH) or a kind of storage disease, but physical examination and laboratory results confirmed the diagnosis of osteopetrosis (OP).
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification.
The diseases for which we have the greatest experience include adrenoleukodystrophia, type 1 mucopolysaccaridosis (Hurler syndrome) and osteopetrosis.
RANKL-deficient mice show a complete absence of osteoclasts and exhibit osteopetrosis [3, 4].
Broumand, "Bisphosphonate-induced exposed bone (osteonecrosis/ osteopetrosis) of the jaws: Risk factors, recognition, prevention, and treatment," Journal of Oral and Maxillofacial Surgery, vol.
Syndromes commonly associated with double teeth are Wolf--Hirschhorn syndrome, achondroplasia, focal dermal hypoplasia, osteopetrosis, and chondroectodermal dysplasia.
Osteopetrosis is a descriptive term that refers to a group of rare, inherited bone disorders first described in 1904 by Albers Schonberg.
Neurotologists, otolaryngologists, and skull base surgeons from the US outline a practical approach to the clinical management of skull base tumors and lesions, beginning with surgical approaches described from the neurotologist's and neurosurgeon's perspectives, then minimally invasive and endoscopic skull base approaches; specific tumors and approaches, including acoustic neuroma, meningioma, neurofibromatosis, petrous apex lesions, and petroclival tumors; temporal bone malignancies; unusual temporal bone lesions, such as Paget's disease, fibrous dysplasia, and osteopetrosis; stereotactic radiotherapy for various types of skull base pathology; and the importance, benefit, and interpretation of intraoperative monitoring.