Naslov
Epidemiological study of Fraser syndrome in Europe
(Epidemiological study of Freaser syndrome in Europe)

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

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

Izvornik
European Journal of Human Genetics. Supplement 2 / - : Nature publishing group, 2008, 375-376

Skup
European Human Genetics Conference 2008

Mjesto i datum
Barcelona, Španjolska, 31.05.2008. - 03.06.2008

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Fraser sindrom; Europa; epidemiološka studija
(Fraser syndrome; Europe; epidemiological study)

Sažetak
Fraser syndrome (FS) is rare autosomal recessive condition with classical features of cryptophtalmos, syndactyly, and genitourinary malformations.Abnormalities of the skull, ears, nose and larynx are also present as well.Due to the rarity of FS, population based epidemiological studies are lacking.We present the result of analysys of 24 cases identified among 10 318 446 pregnancies registered in the EUROCAT network of congenital malformation registries in 1980-2004 period. This corresponds to a prevalence of 0.23/100000 or 1 in 429.935 births. Prenatal ultrasound examination detected abnormalities in 13/24 (54, 2%)features. Mean gestational age at discovery of an abnormality by prenatal ultrasound was 22.3+-3.2 (18-27)gestational weeks.There were 2/24 (8, 3%)fetal deaths, 9/24 (37, 5%) pregnancy termination and 13/24 (54, 2%) were live born.One third of live births did not survive the first week of life. Male:female ratio was 3.4 (17/5).The mean birth weight in live births was 2363+- 622 g for males and 2133 +- 413 g for females.The mean gestational age at birth was 37 weeks for both sexes.The most frequent associated congenital malformations were urogenital (81, 8% ; 18/22), eye (72.7% ; 16/22), and limb 59, 1% ; 13/22)anomalies. The mean maternal ageat birth was 28+- 5 years and the mean paternal age 31+-4 years. Parental consanguinity was present in 7/14 cases and four families had aldready one affected child 4/13.All cases were registered in the Western part of Europe, 12/24 (50%) cases being from Great Britain and Portugal, (prevalence 0, 49/ 100000 or 1 in 202859 births)

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA