Repository logo
 
Publication

Holt Oram syndrome: a registry-based study in Europe

2014-10-25Journal article Open access
Simple item page
dc.contributor.authorBarisic, Ingeborg
dc.contributor.authorBoban, Ljubica
dc.contributor.authorGreenlees, Ruth
dc.contributor.authorGarne, Ester
dc.contributor.authorWellesley, Diana
dc.contributor.authorCalzolar, Elisa
dc.contributor.authorAddor, Marie-Claude
dc.contributor.authorArriola, Larraitz
dc.contributor.authorBergman, Jorieke EH
dc.contributor.authorBraz, Paula
dc.contributor.authorJudith LS Budd, Budd
dc.contributor.authorMiriam, Gatt
dc.contributor.authorMartin, Haeusler
dc.contributor.authorBabak, Khoshnood
dc.contributor.authorKari, Klungsoy
dc.contributor.authorBob, McDonnell
dc.contributor.authorVera, Nelen
dc.contributor.authorAnna, Pierini
dc.contributor.authorAnnette, Queisser-Wahrendorf
dc.contributor.authorJudith, Rankin
dc.contributor.authorAnke, Rissmann
dc.contributor.authorCatherine, Rounding
dc.contributor.authorDavid, Tucker
dc.contributor.authorChristine, Verellen-Dumoulin
dc.contributor.authorHelen, Dolk
dc.date.accessioned2015-01-08T15:40:15Z
dc.date.available2015-01-08T15:40:15Z
dc.date.issued2014-10-25
dc.description.abstractBackground: Holt-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. Methods:The 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. Results: A 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. Conclusions: HOS 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.por
dc.identifier.citationOrphanet J Rare Dis. 2014 Oct 25;9(1):156. doi: 10.1186/s13023-014-0156-ypor
dc.identifier.doi10.1186/s13023-014-0156-y
dc.identifier.urihttp://hdl.handle.net/10400.18/2613
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherBioMed Central/Orphanetpor
dc.relationEUROCATpor
dc.relation.publisherversionhttp://www.ojrd.com/content/9/1/156por
dc.subjectHolt Oram Syndromepor
dc.subjectCongenital Anomaliespor
dc.subjectPrenatal Diagnosispor
dc.subjectEpidemiologypor
dc.subjectEuropepor
dc.subjectEstados de Saúde e de Doençapor
dc.titleHolt Oram syndrome: a registry-based study in Europepor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceLondon, United Kingdompor
oaire.citation.endPage9por
oaire.citation.startPage1por
oaire.citation.titleOrphanet Journal of Rare Diseasespor
oaire.citation.volume9por
rcaap.rightsopenAccesspor
rcaap.typearticlepor

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Holt-Oram syndrome a registry based study in Europe.pdf
Size:
263.34 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DEP - Artigos em revistas internacionais