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

被引：106

作者：

Barisic, Ingeborg ^{[1
]}

Odak, Ljubica ^{[1
]}

Loane, Maria ^{[2
]}

Garne, Ester ^{[3
]}

Wellesley, Diana ^{[4
]}

Calzolari, Elisa ^{[5
]}

Dolk, Helen ^{[2
]}

Addor, Marie-Claude ^{[6
]}

Arriola, Larraitz ^{[7
]}

Bergman, Jorieke ^{[8
]}

Bianca, Sebastiano ^{[9
]}

Doray, Berenice ^{[10
]}

Khoshnood, Babak ^{[11
]}

Klungsoyr, Kari ^{[12
,13
]}

McDonnell, Bob ^{[14
]}

Pierini, Anna ^{[15
]}

Rankin, Judith ^{[16
]}

Rissmann, Anke ^{[17
]}

Rounding, Catherine ^{[18
]}

Queisser-Luft, Annette ^{[19
]}

Scarano, Gioacchino ^{[20
]}

Tucker, David ^{[21
]}

机构：

[1] Univ Zagreb, Sch Med, Childrens Hosp Zagreb, Zagreb 10000, Croatia

[2] Univ Ulster, EUROCAT Cent Registry, Ulster, North Ireland

[3] Hosp Lillebaelt, Dept Pediat, Kolding, Denmark

[4] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[5] Unifersitaria Ferrara, Azienda Osped, Registro IMER, Ferrara, Italy

[6] Autonome Genet Med, Lausanne, Switzerland

[7] Registro Anomalias Congenitas CAV, Donostia San Sebastian, Spain

[8] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Eurocat Registrat Northern Netherlands, NL-9713 AV Groningen, Netherlands

[9] ARNAS Garibaldi, Catania, Italy

[10] Hop Hautepierre, Serv Genet Med, Strasbourg, France

[11] INSERM U953, Paris Registry Congenital Malformat, Paris, France

[12] Univ Bergen, Med Birth Registry Norway, Norwegian Inst Publ Hlth, Bergen, Norway

[13] Univ Bergen, Dept Publ Global Hlth & Primary Hlth Care, Bergen, Norway

[14] Hlth Serv Execut Dr Steevens Hosp, Hlth Informat Unit, Dublin, Ireland

[15] CNR, Inst Clin Physiol, I-56100 Pisa, Italy

[16] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[17] Otto Von Guericke Univ, Fac Med, Malformat Monitoring Ctr Saxony Anhalt, Magdeburg, Germany

[18] Univ Oxford, Natl Perinatal Epidemiol Unit, Oxford, England

[19] Universitatskinderklin Mainz, Mainz, Germany

[20] Azienda Osped G Rummo, Registro Campano Difetti Congeniti, Benevento, Italy

[21] Congenital Anomaly Register, Swansea, W Glam, Wales

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2014年 / 22卷 / 08期

关键词：

oculo-auriculo-vertebral spectrum; epidemiology; congenital anomalies; Europe; DOMINANT OCULOAURICULOVERTEBRAL SPECTRUM; GOLDENHAR-SYNDROME; HEMIFACIAL MICROSOMIA; OCULOAURICULOFRONTONASAL SYNDROME; ABNORMALITIES; DYSPLASIA; MANIFESTATIONS; OAVS; CLASSIFICATION; FERTILIZATION;

D O I：

10.1038/ejhg.2013.287

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1026 / 1033

页数：8

共 55 条

[31] SEVERE MANIFESTATIONS OF OCULOAURICULOVERTEBRAL SPECTRUM IN A COCAINE EXPOSED INFANT [J].