Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe (Articolo in rivista) (literal)

Anno

• 2014-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1038/ejhg.2013.287 (literal)

Alternative label

• Barisic, Ingeborg; Odak, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Bianca, Sebastiano; Doray, Berenice; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Queisser-Luft, Annette; Scarano, Gioacchino; Tucker, David (2014)
  Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe
  in European journal of human genetics
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Barisic, Ingeborg; Odak, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Bianca, Sebastiano; Doray, Berenice; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Queisser-Luft, Annette; Scarano, Gioacchino; Tucker, David (literal)

Pagina inizio

• 1026 (literal)

Pagina fine

• 1033 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://www.ncbi.nlm.nih.gov/pubmed/24398798 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 22 (literal)

Rivista

• European journal of human genetics (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 8 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 8 (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• University of Zagreb; University of Ulster; Hosp Lillebaelt; Princess Anne Hosp; University Ferrara Hospital; Autonome Genet Med; Registro Anomalias Congenitas CAV; University of Groningen; ARNAS Garibaldi; Hospital University of Strasbourg; Institut National de la Sante et de la Recherche Medicale (Inserm); University of Bergen; University of Bergen; Hlth Serv Execut Dr Steevens Hosp; Consiglio Nazionale delle Ricerche (CNR); Newcastle University - UK; Otto von Guericke University; University of Oxford; Universitatskinderklin Mainz; Azienda Osped G Rummo; Congenital Anomaly Register (literal)

Titolo

• Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe (literal)

Abstract

• Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder. (literal)

Prodotto di

• Istituto di fisiologia clinica (IFC) (Istituto)
• Epidemiologia ambientale e registri di patologia (ME.P07.016.001) (Modulo)

Autore CNR

• ANNA PIERINI (Unità di personale interno)

Insieme di parole chiave

• Parole chiave di "Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe" (Insieme di parole chiave)

Incoming links:

Prodotto

• Istituto di fisiologia clinica (IFC) (Istituto)
• Epidemiologia ambientale e registri di patologia (ME.P07.016.001) (Modulo)

Autore CNR di

• ANNA PIERINI (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• European journal of human genetics (Rivista)

Insieme di parole chiave di

• Parole chiave di "Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe" (Insieme di parole chiave)