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dc.contributor.authorBarisic, Ingeborgen_US
dc.contributor.authorBoban, Ljubicaen_US
dc.contributor.authorGreenlees, Ruthen_US
dc.contributor.authorGarne, Esteren_US
dc.contributor.authorWellesley, Dianaen_US
dc.contributor.authorCalzolari, Elisaen_US
dc.contributor.authorAddor, Marie-Claudeen_US
dc.contributor.authorArriola, Larraitzen_US
dc.contributor.authorBergman, Jorieke E. H.en_US
dc.contributor.authorBraz, Paulaen_US
dc.contributor.authorBudd, Judith L. S.en_US
dc.contributor.authorGatt, Miriamen_US
dc.contributor.authorHaeusler, Martinen_US
dc.contributor.authorKhoshnood, Babaken_US
dc.contributor.authorKlungsøyr, Karien_US
dc.contributor.authorMcDonnell, Boben_US
dc.contributor.authorNelen, Veraen_US
dc.contributor.authorPierini, Annaen_US
dc.contributor.authorQueisser-Wahrendorf, Annetteen_US
dc.contributor.authorRankin, Judithen_US
dc.contributor.authorRissmann, Ankeen_US
dc.contributor.authorRounding, Catherineen_US
dc.contributor.authorTucker, Daviden_US
dc.contributor.authorVerellen-Dumoulin, Christineen_US
dc.contributor.authorDolk, Helenen_US
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 populationbased 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.en_US
dc.publisherBioMed Centraleng
dc.rightsAttribution CC BYeng
dc.subjectHolt Oram syndromeeng
dc.subjectCongenital anomalieseng
dc.subjectPrenatal diagnosiseng
dc.titleHolt Oram syndrome: a registry-based study in Europeen_US
dc.typePeer reviewed
dc.typeJournal article
dc.rights.holderCopyright 2014 Barisic et al.; licensee BioMed Central Ltd
dc.rights.holderIngeborg Barisic et al.; licensee BioMed Central Ltd.
dc.source.journalOrphanet Journal of Rare Diseases

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