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Ellis-Van Creveld syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2007
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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 (89th percentile)
  • Good Attention Score compared to outputs of the same age and source (69th percentile)

Mentioned by

news
1 news outlet
wikipedia
3 Wikipedia pages

Citations

dimensions_citation
180 Dimensions

Readers on

mendeley
147 Mendeley
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Title
Ellis-Van Creveld syndrome
Published in
Orphanet Journal of Rare Diseases, June 2007
DOI 10.1186/1750-1172-2-27
Pubmed ID
Authors

Geneviève Baujat, Martine Le Merrer

Abstract

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 147 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 5 3%
France 1 <1%
Germany 1 <1%
Unknown 140 95%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 39 27%
Other 14 10%
Student > Postgraduate 13 9%
Researcher 12 8%
Student > Ph. D. Student 11 7%
Other 24 16%
Unknown 34 23%
Readers by discipline Count As %
Medicine and Dentistry 59 40%
Agricultural and Biological Sciences 18 12%
Biochemistry, Genetics and Molecular Biology 17 12%
Nursing and Health Professions 3 2%
Social Sciences 2 1%
Other 10 7%
Unknown 38 26%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 31 January 2024.
All research outputs
#3,381,744
of 25,263,619 outputs
Outputs from Orphanet Journal of Rare Diseases
#489
of 3,049 outputs
Outputs of similar age
#8,057
of 79,977 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#5
of 13 outputs
Altmetric has tracked 25,263,619 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,049 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has done well, scoring higher than 83% 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 79,977 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% 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 gotten more attention than average, scoring higher than 69% of its contemporaries.