osteopetrosis


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Related to osteopetrosis: osteogenesis imperfecta

osteopetrosis

 [os″te-o-pĕ-tro´sis]
a rare hereditary, congenital condition in which there are bandlike areas of condensed bone at the epiphyseal lines of long bones and condensation of the edges of smaller bones. Fractures occur frequently and deformities of the head, chest, or spine develop. There is no treatment and the prognosis is unfavorable. There may be obliteration of the marrow spaces, causing anemia. Called also Albers-Schönberg disease and marble bones.

os·te·o·pe·tro·sis

(os'tē-ō-pe-trō'sis), [MIM*166600]
Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy, to bone fragility, and to progressive deafness and blindness; autosomal dominant inheritance. There are also autosomal recessive forms, which may be mild [MIM*259710], severe [MIM*259700], or lethal [MIM*259720], and sometimes involve a renal tubular defect [MIM*259730]. A milder, autosomal dominant form has onset in childhood and no neurologic sequelae.
[osteo- + G. petra, stone, + -osis, condition]

osteopetrosis

/os·teo·pe·tro·sis/ (-pĭ-tro´sis) a hereditary disease marked by abnormally dense bone, and by the common occurrence of fractures of affected bone.

osteopetrosis

[os′tē·ōpētrō′sis]
Etymology: Gk, osteon + petra, stone, osis, condition
an inherited disorder characterized by a generalized increase in bone density, probably caused by faulty bone resorption resulting from a deficiency of osteoclasts. In its most severe form, transmitted as an autosomal-recessive condition, the bone marrow cavity is obliterated, causing severe anemia, marked deformities of the skull, and compression of the cranial nerves, which may result in deafness and blindness and lead to an early death. A milder, benign form, transmitted as an autosomal-dominant trait, is characterized by short stature, fragile bones that fracture easily, and a tendency to develop osteomyelitis. Also called ivory bones, marble bones, osteosclerosis fragilis. See also Albers-Schönberg disease. osteopetrotic, adj.
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Osteopetrosis

osteopetrosis

Albers-Schoenberg disease, marble bone disease Pediatric endocrinology A heterogeneous group of rare AD and cortical and trabecular osteosclerotic disorders, characterized by ↓ osteoclastic activity and ↓ bone resorption, with accumulation of sclerotic bone, compromising marrow space Management IFN-gamma-1b, BMT, high-dose calcitriol

os·te·o·pe·tro·sis

(os'tē-ō-pĕ-trō'sis)
Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia, with myeloid metaplasia and hepatosplenomegaly, beginning in infancy and with progressive deafness and blindness.
Synonym(s): Albers-Schönberg disease.
[osteo- + G. petra, stone, + -osis, condition]

osteopetrosis

A group of hereditary bone disorders featuring increased density (‘marble bones’) but increased fragility (‘osteosclerosis fragilis’). In some cases excessive bone growth can cause pressure effects on nerves passing through bony canals. The condition is due to a defect of bone resorption by OSTEOCLASTS so that osteoblastic bone synthesis proceeds unchecked. It can sometimes be treated by bone marrow transfusion to provide normal osteoclasts. Also known as Albers-Schonberg disease after Heinrich Ernst Albers Schönberg (1865–1921) who was professor of radiology at Hamburg.

Albers-Schönberg,

Heinrich Ernst, German radiologist, 1865-1921.
Albers-Schönberg disease - excessive formation of dense trabecular bone and calcified cartilage. Synonym(s): osteopetrosis

disease

pathogenic entity characterized by an identifiable aetiological agent, group of signs and symptoms and/or consistent anatomical alterations; see syndrome
Albers-SchÖnberg disease; osteopetrosis; marble bone disease rare autosomal-recessive condition presenting in infancy and characterized by increased bone density, cartilage calcification, obliteration of marrow spaces, anaemia, splenomegaly, progressive deafness and blindness

os·te·o·pe·tro·sis

(os'tē-ō-pĕ-trō'sis) [MIM*166600]
Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy.
[osteo- + G. petra, stone, + -osis, condition]

osteopetrosis (ostēōpetrō´sis),

n an osteosclerosis of unknown origin that obliterates the bone marrow regions, with resultant anemia. Delayed tooth eruption and severe osteomyelitis or necrosis after dental infection may be associated with the disease. Also known as
Albers-Schönberg disease, marble bone.
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Osteopetrosis.

osteopetrosis

in mammals, a hereditary disease marked by abnormally dense bone, and by the common occurrence of fractures of affected bone. It may lead to obliteration of the marrow spaces, causing anemia. Readily diagnosable radiographically. Occurs in rats, rabbits and cattle, in which it is usually associated with other inherited, congenital skeletal defects including shortness of long bones. In calves needs to be differentiated from similar lesions caused by infection in utero by the bovine virus diarrhea virus.

avian osteopetrosis
occurs as part of the avian leukosis, rous sarcoma complex. All bones are affected but the long bones are most obviously deformed. Called also thick leg disease of poultry.
References in periodicals archive ?
There are several types of osteopetrosis caused by different mutant genes (1-3).
of Percentage Cases Autosomal recessive inheritance pattern 0 0 Intermediate autosomal recessive osteopetrosis 4 40 Autosomal dominant osteopetrosis 6 60
Patients with the adult form of osteopetrosis often present in late adolescence or adulthood with complications confined mainly to the skeletal system.
A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.
Unfortunately, there is no effective medical management for osteopetrosis, but the treatment usually involves offering support for the management of symptomatic complications.
Tissue samples of seven affected calves were first examined for bovine viral diarrhea virus, a known infectious cause of osteopetrosis, but the results were negative.
Andrew's body is now free of the disease, called malignant infantile osteopetrosis, and he is expected to live a normal, healthy life.
Similar conditions include rare bone dysplasias like hyperphosphatasia, Engelmann disease, osteopetrosis and fibrogenesis imperfecta.
InterMune's revenues are comprised of revenues from our HCV collaboration with Roche and sales of Actimmune(R), which is approved for two indications, chronic granulomatous disease (CGD) and severe, malignant osteopetrosis.
Thicker frontal bones, such as those seen in osteopetrosis, tend to form smaller, less aerated sinuses.
La osteopetrosis congenita, por ejemplo, se descubre en la lactancia o la primera infancia y afecta a la medula osea; sin un trasplante de medula osea, esta afeccion es mortal.
Otras causas menos frecuentes son hiperparatiriodismo primario y secundario, hipervitaminosis D, osteopetrosis, sindrome de alcali leche y, mucho menos frecuente, las de causa maligna como en mieloma multiple, linfoma o carcinoma de paratiroides, entre otros.