↓ Skip to main content

Osteopetrosis

Overview of attention for article published in Orphanet Journal of Rare Diseases, February 2009
Altmetric Badge

About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (91st percentile)
  • High Attention Score compared to outputs of the same age and source (99th percentile)

Mentioned by

news
1 news outlet
twitter
7 tweeters
wikipedia
2 Wikipedia pages

Citations

dimensions_citation
313 Dimensions

Readers on

mendeley
270 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Osteopetrosis
Published in
Orphanet Journal of Rare Diseases, February 2009
DOI 10.1186/1750-1172-4-5
Pubmed ID
Authors

Zornitza Stark, Ravi Savarirayan

Abstract

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, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy.

Twitter Demographics

The data shown below were collected from the profiles of 7 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 270 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 2 <1%
Netherlands 1 <1%
Pakistan 1 <1%
Hong Kong 1 <1%
Australia 1 <1%
Brazil 1 <1%
Italy 1 <1%
Argentina 1 <1%
United Kingdom 1 <1%
Other 2 <1%
Unknown 258 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 40 15%
Student > Bachelor 39 14%
Student > Master 33 12%
Researcher 27 10%
Student > Doctoral Student 22 8%
Other 64 24%
Unknown 45 17%
Readers by discipline Count As %
Medicine and Dentistry 121 45%
Biochemistry, Genetics and Molecular Biology 31 11%
Agricultural and Biological Sciences 28 10%
Engineering 9 3%
Immunology and Microbiology 5 2%
Other 26 10%
Unknown 50 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 16. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 May 2021.
All research outputs
#1,542,503
of 19,148,527 outputs
Outputs from Orphanet Journal of Rare Diseases
#152
of 2,069 outputs
Outputs of similar age
#13,840
of 168,916 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 13 outputs
Altmetric has tracked 19,148,527 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,069 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.5. This one has done particularly well, scoring higher than 92% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 168,916 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 91% of its contemporaries.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 99% of its contemporaries.