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Brachydactyly

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2008
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (93rd percentile)

Mentioned by

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3 news outlets
twitter
1 tweeter
facebook
2 Facebook pages

Citations

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90 Dimensions

Readers on

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63 Mendeley
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Title
Brachydactyly
Published in
Orphanet Journal of Rare Diseases, June 2008
DOI 10.1186/1750-1172-3-15
Pubmed ID
Authors

Samia A Temtamy, Mona S Aglan

Abstract

Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. Diagnosis is clinical, anthropometric and radiological. Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known. The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function. Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 63 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
France 1 2%
Korea, Republic of 1 2%
Italy 1 2%
Brazil 1 2%
Mexico 1 2%
Unknown 58 92%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 12 19%
Student > Master 11 17%
Researcher 9 14%
Professor > Associate Professor 5 8%
Student > Doctoral Student 5 8%
Other 16 25%
Unknown 5 8%
Readers by discipline Count As %
Medicine and Dentistry 31 49%
Agricultural and Biological Sciences 11 17%
Biochemistry, Genetics and Molecular Biology 7 11%
Nursing and Health Professions 2 3%
Immunology and Microbiology 2 3%
Other 3 5%
Unknown 7 11%

Attention Score in Context

This research output has an Altmetric Attention Score of 28. 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 06 December 2018.
All research outputs
#649,362
of 14,402,974 outputs
Outputs from Orphanet Journal of Rare Diseases
#53
of 1,583 outputs
Outputs of similar age
#13,530
of 223,916 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 1 outputs
Altmetric has tracked 14,402,974 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,583 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. This one has done particularly well, scoring higher than 96% 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 223,916 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 93% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them