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Related to osteopetrosis: osteogenesis imperfecta
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In this study, an affected girl with osteopetrosis was introduced who had no mutation in most common causative genes (TCIRG1, CLCN7 and OSTM1) for the disease, but analysis of SNX10 gene was able to detect a novel homozygous deletion in her.
Patients with intermediate osteopetrosis are often asymptomatic at birth and bone marrow failure is rare.
Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis.
Both clinical and radiological evaluations are used to diagnose osteopetrosis.
Wallace Beltsville [Maryland] Agricultural Research Center collaborated with veterinary researchers at the University of Nebraska and University of Wyoming to identify the gene mutation responsible for the disorder and to develop a diagnostic test that identifies osteopetrosis carriers.
Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients.
No causative gene for the eruption defect has been identified yet for this syndrome, contrary to a number of disorders which are all associated with primary failure of eruption such as Cleidocranial Dysplasia, Osteopetrosis and Osteoglophonic Dysplasia [Ahmad et al.
The eight-month-old girl, who lives in Saltley, Birmingham, suffers from a rare bone disorder called malignant infantile osteopetrosis, which is a hereditary condition that affects one in 500,000 babies.
Conversely, osteopetrosis is an increase in both bone mineral and bone matrix, beyond that necessary for normal function [6].
Gamma Immunex (recombinant interferon beta 1) is an effective treatment for patients suffering from infectious diseases such as chronic granulomatous and malignant osteopetrosis.