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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Brachydactyly E: isolated or as a feature of a syndrome
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, September 2013
|
| DOI | 10.1186/1750-1172-8-141 |
| Pubmed ID | |
| Authors |
Arrate Pereda, Intza Garin, Maria Garcia-Barcina, Blanca Gener, Elena Beristain, Ane Miren Ibañez, Guiomar Perez de Nanclares |
| Abstract |
Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Mexico | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 50% |
| Members of the public | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 51 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 2% |
| Unknown | 50 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 8 | 16% |
| Student > Ph. D. Student | 8 | 16% |
| Researcher | 6 | 12% |
| Professor > Associate Professor | 4 | 8% |
| Student > Doctoral Student | 2 | 4% |
| Other | 7 | 14% |
| Unknown | 16 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 17 | 33% |
| Biochemistry, Genetics and Molecular Biology | 9 | 18% |
| Social Sciences | 2 | 4% |
| Immunology and Microbiology | 2 | 4% |
| Agricultural and Biological Sciences | 1 | 2% |
| Other | 3 | 6% |
| Unknown | 17 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 17 September 2013.
All research outputs
#15,279,577
of 22,721,584 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,778
of 2,604 outputs
Outputs of similar age
#121,911
of 198,485 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#25
of 36 outputs
Altmetric has tracked 22,721,584 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,604 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 23rd percentile – i.e., 23% of its peers scored the same or lower than it.
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 198,485 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 36 others from the same source and published within six weeks on either side of this one. This one is in the 11th percentile – i.e., 11% of its contemporaries scored the same or lower than it.