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

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

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]
References in periodicals archive ?
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.
Clinical presentation of osteopetrosis is very variable, ranging from asymptomatic to fatal in infancy.
Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course.
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcifications): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Osteopetrosis is a rare hereditary condition characterized by an increase in bone density.
Review osteopetrosis. Orphanet Journal of Rare Diseases 2009;4:5.
The appearance is similar to those seen in some patients with osteopetrosis or heavy metal poisoning.
Fatima Al-Muharrami started losing her sight aged two from osteopetrosis, a rare bone disease where bones can overgrow and put pressure on the brain's optic nerve, leading to visual impairment or blindness.
Fatima Al-Muharrami started losing her sight at the age of two from osteopetrosis, a rare bone disease where the bones can overgrow and put pressure on the optic nerve in the brain, leading to visual impairment or blindness.
The return of marble bone disease, also known as "osteopetrosis," became a high priority for Larry Keenan, director of breed improvement at the Red Angus Association of America (RAAA) in Denton, Texas.
Si se diagnostica una fractura por insuficiencia, debe buscarse una causa subyacente, que puede ser tan variable como osteoporosis, artritis reumatoide, enfermedad de Paget, osteomalacia o raquitismo, hiperparatiroidismo, osteodistrofia renal, displasias oseas como osteogenesis imperfecta, osteopetrosis, y otras, lesiones preexistentes como displasia fibrosa e irradiacion y otros factores predisponentes como obesidad, hallux valgus, o cirugia previa realizada en pie.
Ectodermal dysplasia with immunodeficiency (EDID) and ectodermal dysplasia with immunodeficiency, osteopetrosis and lymphedema (OL-ED-ID) are allelic to IP as both are caused by mutation in the same gene (NEMO) (5).