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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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Mentioned by

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3 tweeters
wikipedia
3 Wikipedia pages

Citations

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158 Dimensions

Readers on

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125 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.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 125 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 5 4%
France 1 <1%
Germany 1 <1%
Unknown 118 94%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 36 29%
Student > Postgraduate 13 10%
Other 12 10%
Researcher 12 10%
Student > Ph. D. Student 11 9%
Other 22 18%
Unknown 19 15%
Readers by discipline Count As %
Medicine and Dentistry 57 46%
Agricultural and Biological Sciences 18 14%
Biochemistry, Genetics and Molecular Biology 16 13%
Psychology 2 2%
Chemistry 2 2%
Other 7 6%
Unknown 23 18%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 12 June 2015.
All research outputs
#5,676,302
of 20,688,188 outputs
Outputs from Orphanet Journal of Rare Diseases
#738
of 2,317 outputs
Outputs of similar age
#69,479
of 282,622 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#18
of 31 outputs
Altmetric has tracked 20,688,188 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 2,317 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one has gotten more attention than average, scoring higher than 67% 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 282,622 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 75% of its contemporaries.
We're also able to compare this research output to 31 others from the same source and published within six weeks on either side of this one. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.