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dc.contributor.authorGarne, Een_US
dc.contributor.authorRissmann, Aen_US
dc.contributor.authorAddor, M-Cen_US
dc.contributor.authorBarisic, Ien_US
dc.contributor.authorBergman, Jen_US
dc.contributor.authorBraz, Pen_US
dc.contributor.authorCavero-Carbonell, Cen_US
dc.contributor.authorDraper, ESen_US
dc.contributor.authorGatt, Men_US
dc.contributor.authorHaeusler, Men_US
dc.contributor.authorKlungsoyr, Ken_US
dc.contributor.authorKurinczuk, JJen_US
dc.contributor.authorLelong, Nen_US
dc.contributor.authorLuyt, Ken_US
dc.contributor.authorLynch, Cen_US
dc.contributor.authorO'Mahony, MTen_US
dc.contributor.authorMokoroa, Oen_US
dc.contributor.authorNelen, Ven_US
dc.contributor.authorNeville, AJen_US
dc.contributor.authorPierini, Aen_US
dc.contributor.authorRandrianaivo, Hen_US
dc.contributor.authorRankin, Jen_US
dc.contributor.authorRouget, Fen_US
dc.contributor.authorSchaub, Ben_US
dc.contributor.authorTucker, Den_US
dc.contributor.authorVerellen-Dumoulin, Cen_US
dc.contributor.authorWellesley, Den_US
dc.contributor.authorWiesel, Aen_US
dc.contributor.authorZymak-Zakutnia, Nen_US
dc.contributor.authorLanzoni, Men_US
dc.contributor.authorMorris, JKen_US
dc.date.accessioned2018-06-26T10:20:05Z
dc.date.available2018-05-08en_US
dc.date.issued2018-09en_US
dc.date.submitted2018-06-05T16:01:45.752Z
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/40404
dc.description.abstractSepto-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6.4 million births. There were 99 cases with a diagnosis of septo-optic dysplasia. The prevalence of septo-optic dysplasia in Europe was calculated to lie between 1.9 and 2.5 per 100,000 births after adjusting for potential under-reporting in some registries. The prevalence was highest in babies of mothers aged 20-24 years of age and was significantly higher in UK registries compared with other EUROCAT registries (P = 0.021 in the multilevel model) and the additional risk for younger mothers was significantly greater in the UK compared to the rest of Europe (P = 0.027). The majority of septo-optic dysplasia cases were classified as an isolated cerebral anomaly (N = 76, 77%). Forty percent of diagnoses occurred in fetuses with a prenatal diagnosis. The anomaly may not be visible at birth, which is reflected in that 57% of the postnatal diagnoses occurred over 1 month after birth. This is the first population based study to describe the prevalence of septo-optic dysplasia in Europe. Septo-optic dysplasia shares epidemiological patterns with gastroschisis and this strengthens the hypothesis of vascular disruption being an aetiological factor for septo-optic dysplasia.en_US
dc.format.extent483 - 488en_US
dc.languageengen_US
dc.language.isoenen_US
dc.relation.ispartofEur J Med Geneten_US
dc.subjectAssociated anomaliesen_US
dc.subjectEUROCATen_US
dc.subjectMaternal ageen_US
dc.subjectPopulation baseden_US
dc.subjectPrevalenceen_US
dc.subjectSepto-optic dysplasiaen_US
dc.subjectAdolescenten_US
dc.subjectAdulten_US
dc.subjectEuropeen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectInfant, Newbornen_US
dc.subjectMaternal Ageen_US
dc.subjectSepto-Optic Dysplasiaen_US
dc.titleEpidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.en_US
dc.typeArticle
dc.identifier.doi10.1016/j.ejmg.2018.05.010en_US
pubs.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/29753093en_US
pubs.issue9en_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume61en_US
dcterms.dateAccepted2018-05-08en_US


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