Osteopetrosis (Subscribe)  

Clinical Severity and Natural History of 94 Subjects with a Chloride Channel 7 Gene Mutation
Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the...

#259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE Alternative titles; OPTB1 MARBLE BONES, AUTOSOMAL RECESSIVE ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE Gene map locus 16p13, 11q13.4-q13.5, 6q21 a subset of autosomal recessive osteopetrosis is caused by mutation in the TCIRG1 subunit (604592) of the vacuolar proton pump. Autosomal recessive infantile malignant osteopetrosis can also result from mutations in the CLCN7 gene...

Paper in Blood 1 April 2001 Vol 97 Number 7

We have used dual-energy x-ray absorptiometry (DXA) in evaluation and follow-up of a patient with osteopetrosis, before and after cord blood transplantation. Other methods of follow-up in such cases have been described, but the use of DXA has not previously been reported. We have shown that DXA offers a safe...

eMedicine - Osteopetrosis : Article by Anuj Bhargava Background A German radiologist, Albers-Schönberg, first described osteopetrosis in 1904. Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. As a consequence, bone modeling and remodeling are impaired. The defect in bone turnover characteristically results in skeletal fragility despite...

Osteopetrosis is a rare bone dysplasia, characterized by failure of bone resorption and persistence of calcified chondroid and primitive bone thought to be due to functional deficiency of osteoclasts. The effects of osteoclastic dysfunction may primarily or secondarily affect several organ systems, including skeletal, endocrine, neurologic, hematopoetic, renal, immunologic, ophthalmologic...

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Case series using internal fixation. PubMed Abstract Orthopedics. 2005 Jun;28(6):587-92 Chhabra A, Westerlund LE, Kline AJ, McLaughlin R.

Management of Proximal Femoral Shaft Fractures in Osteopetrosis: A Case Series Using Internal Fixation By Anikar Chhabra, MD, MS; L. Erik Westerlund, MD; Alex J. Kline, BS; Robert McLaughlin, MD ORTHOPEDICS 2005; 28:587
Osteopetrosis is a group of rare sclerosing bone dysplasias. Orthopedic concerns in osteopetrosis are principally related to the...

Osteopetrosis is an extremely rare inhereditory bone disorder, in which defective bone resorption by osteoclasts leads to excessive bone deposition. Though, there is usually calcium excess in osteopetrosis, rickets has been described rarely as a paradoxical complication of infantile osteopetrosis and it results from the inability of the osteoclasts to...

marble bones, brittle bones, osteosclerosis fragilis
* abnormally dense bones
* brittle, fracture easily
* "rugger jersey" spine
* may be cause of anemia (d/t obliterated marrow space)

#166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II; OPTA2 Alternative titles; MARBLE BONES, AUTOSOMAL DOMINANT OSTEOSCLEROSIS FRAGILIS GENERALISATA ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT Gene map locus 16p13 autosomal dominant osteopetrosis type II can result from mutation in the CLCN7 gene (602727). DESCRIPTION Autosomal dominant osteopetrosis type II is characterized by sclerosis, predominantly involving the spine, the pelvis, and the...

Osteopetrosis (benign) may cause or feature Miscellaneous syndromes Hyperostosis Pathological fracture Haematological abnormalities Leucoerythroblastic anaemia Biochemical abnormalities Acid phosphatase levels raised (plasma or serum) X-ray abnormalities Osteosclerosis may be a risk factor for Osteomyelitis belong(s) to the category of Mendelian inherited conditions

Radiology case 338-1552 Clinical presentation: Lumbar spine of a child, no other detail.
The vertebrae have a thick band of abnormally increased bone density at their upper and lower margins. Within the body of each vertebra, there are curved areas of density change that roughly parallel the vertebral margins. The appearance can...

259710 OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM Burns et al. (1978) described a form of osteopetrosis resembling the autosomal dominant form (166600) in its benignity but displaying autosomal recessive inheritance like the malignant infantile form (259700). The clinical features were variable but included mandibular prognathism, genu valgum, anemia, hepatosplenomegaly, and tendency...