Naslov
Epidemiology of oculo-auriculo-vertebral spectrum (OAVS): a registry-based study on European population

Autori
Barišić, Ingeborg ; Tokić, Višnja ; Loane, Maria ; Bianchi, Fabrizio ; Calzolari, Eliza ; Garne, Ester ; Wellesley, Diana ; Dolk, Helen

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Journal of Human Genetics. Supplement 1 / Van Ommen, Gert-Jan B - Leiden : Nautre Publishing Group, 2007, 301-301

Skup
European Human Genetics Conference 2007

Mjesto i datum
Nica, Francuska, 16.06.2007. - 19.06.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
oculo-auriculo-vertebral spectrum; EUROCAT; rare syndrome; registry

Sažetak
Oculoariculovertebral spectrum (OAVS) is a phenotypically and genetically heterogenous disorder grouping together different conditions thought to be caused by impaired development of the first and second branchial arches including Goldenhar syndrome, facioauriculovertebral syndrome, hemifacial microsomia, and otomandibular dysostosis. We present the results of the population-based epidemiological study on the severe end of OAV spectrum. The data were extracted from the database of EUROCAT (European Surveillance of Congenital Anomalies), a large European network of birth defect registries that use the same epidemiological methodologies. Based on data collected during the 1980-2004 period, we found the prevalence of the severe OAVS cases to be 2.63/100 000 births or 1/38022. The most frequently associated congenital malformations were major ear malformations that accounted for 30% of cases (68/224). Vertebral anomalies were reported in 30% of cases (67/224), and cardiac defects were present in 25% of cases (57/224). Severe central nervous system involvement was rare (17/224 – 8%). Prenatal ultrasound examination in the period 2000-2004 detected abnormalities in 15% (16/111) of cases. Live born infants with OAVS have a high first week survival (98.5%). Maternal and paternal ages do not seem to be risk factors for OAVS. Almost 35% of patients, born after the 37th week of gestation, weighed less than 2500 g. Among 272 patients, consanguinity of parents was registered in 5 cases. OAVS among sibs was found in 4 cases, while family history for OAVS was positive in additional 10 cases. No evidence of exposure to consistent teratogenic agents including maternal diabetes was noted.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA