Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2613
Título: Holt Oram syndrome: a registry-based study in Europe
Autor: Barisic, Ingeborg
Boban, Ljubica
Greenlees, Ruth
Garne, Ester
Wellesley, Diana
Calzolar, Elisa
Addor, Marie-Claude
Arriola, Larraitz
Bergman, Jorieke EH
Braz, Paula
Judith LS Budd, Budd
Miriam, Gatt
Martin, Haeusler
Babak, Khoshnood
Kari, Klungsoy
Bob, McDonnell
Vera, Nelen
Anna, Pierini
Annette, Queisser-Wahrendorf
Judith, Rankin
Anke, Rissmann
Catherine, Rounding
David, Tucker
Christine, Verellen-Dumoulin
Helen, Dolk
Palavras-chave: Holt Oram Syndrome
Congenital Anomalies
Prenatal Diagnosis
Epidemiology
Europe
Estados de Saúde e de Doença
Data: 25-Out-2014
Editora: BioMed Central/Orphanet
Citação: Orphanet J Rare Dis. 2014 Oct 25;9(1):156. doi: 10.1186/s13023-014-0156-y
Resumo: Background: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2613
DOI: 10.1186/s13023-014-0156-y
Versão do Editor: http://www.ojrd.com/content/9/1/156
Aparece nas colecções:DEP - Artigos em revistas internacionais

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