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Holt Oram syndrome: a registry-based study in Europe

Overview of attention for article published in Orphanet Journal of Rare Diseases, October 2014
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  • Above-average Attention Score compared to outputs of the same age (58th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (57th percentile)

Mentioned by

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6 tweeters

Citations

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40 Dimensions

Readers on

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64 Mendeley
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Title
Holt Oram syndrome: a registry-based study in Europe
Published in
Orphanet Journal of Rare Diseases, October 2014
DOI 10.1186/s13023-014-0156-y
Pubmed ID
Authors

Ingeborg Barisic, Ljubica Boban, Ruth Greenlees, Ester Garne, Diana Wellesley, Elisa Calzolari, Marie-Claude Addor, Larraitz Arriola, Jorieke EH Bergman, Paula Braz, Judith LS Budd, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Bob McDonnell, Vera Nelen, Anna Pierini, Annette Queisser-Wahrendorf, Judith Rankin, Anke Rissmann, Catherine Rounding, David Tucker, Christine Verellen-Dumoulin, Helen Dolk

Abstract

BackgroundHolt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries.MethodsThe study was based on data collected during 1990¿2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS.ResultsA total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births.ConclusionsHOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes.

Twitter Demographics

The data shown below were collected from the profiles of 6 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 64 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 2%
Unknown 63 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 17%
Other 10 16%
Student > Ph. D. Student 9 14%
Student > Master 7 11%
Student > Bachelor 5 8%
Other 10 16%
Unknown 12 19%
Readers by discipline Count As %
Medicine and Dentistry 21 33%
Biochemistry, Genetics and Molecular Biology 11 17%
Agricultural and Biological Sciences 4 6%
Unspecified 3 5%
Nursing and Health Professions 2 3%
Other 9 14%
Unknown 14 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 11 November 2014.
All research outputs
#6,910,968
of 21,321,610 outputs
Outputs from Orphanet Journal of Rare Diseases
#991
of 2,380 outputs
Outputs of similar age
#82,336
of 252,668 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#67
of 163 outputs
Altmetric has tracked 21,321,610 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,380 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 54% 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 252,668 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 58% of its contemporaries.
We're also able to compare this research output to 163 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 57% of its contemporaries.