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#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...

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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...

#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...

What is Osteopetrosis? Osteopetrosis is a congenital disorder characterized by defective or absent osteoclasts, the cells that break down bone. In healthy bone, a balance is achieved between the production of bone by osteoblasts, and the break down of bone by osteoclasts. In osteopetrosis, osteoclasts don’t function normally, 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

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...

Synonyms of Osteopetrosis Albers-Schonberg Disease Marble Bones Osteosclerosis Fragilis Generalisata Disorder Subdivisions Osteopetrosis, autosomal dominant; adult type Osteopetrosis, autosomal recessive; malignant infantile type Osteopetrosis, mild autosomal recessive; intermediate type General Discussion Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in...

- osteopetrosis is failure of osteoclastic and chondroclastic resorption; - bones become exceedingly dense; - marrow space is filled w/ unresorbed dense bone; - disease results from lack of osteoclastic resorption, leading to thickened bones & exclusion...

Osteopetrosis is the general name for a heterogeneous group of disorders characterized by increased bone mass and increased skeletal radiopacity. The different forms of osteopetrosis are all characterized by failure of osteoclast to resorb bone, with resultant increase in the amount of bone.

Conclusion: The osteosclerosis depicted on skeletal radiographs of patients with osteopetrosis results from an increase in the amount of bone, not from an increase in the percentage of mineralized bone per unit volume of tissue.
AJR: 168 April 1997