Osteopetrosis (Subscribe)  

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 ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births,...

AKA Marble bone disease
AKA Albers-Schonberg disease
Definition
Abnormally dense bones due disorder of osteoclasis

Synonyms: marble bones disease, Albers-Schonberg disease
Osteopetrosis is a clinical syndrome characterised by the failure of osteoclasts to resorb bone, leading to impairment of bone modelling and remodelling. This results in skeletal fragility despite increased bone mass, and it may also cause bone marrow failure, disturbed tooth eruption, nerve entrapment syndromes...

- 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

Search String "Osteopetrosis"[MAJR] AND (orthopedic[Text Word] OR ("orthopedics"[TIAB] NOT Medline[SB]) OR "orthopedics"[MeSH Terms] OR orthopaedic[Text Word])

Illustrated cases from the experience of Dr Vinod Naneria, Indore, MP, India
Cases include synovial chondromatosis, fibromatosis, haemangiomas, Osteochondritis dissecans, Multiple Myeloma, Osteoid Osteoma, Osteochondroma, Lipoma, Fibroma, Non-ossifying Fibroma, Fibrous cortical defects, Paget Disease, Osteogenesis Imperfecta, Osteopetrosis, Hyperparathyroidism, Neurofibromatosis, Neurilemoma

Overview of this rare disorder which is inherited