Naslov
Epidemiological study of Beckwith Wiedemann syndrome in European population

Autori
Odak, Ljubica ; Barišić, Ingeborg ; Loane, M ; Calzolari, E ; Garne, E ; Wellesley, D ; Dolk, H

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

Izvornik
European Journal of Human Genetics. Supplement 2 / - Amsterdam : Nature publishing group, 2011, 329-329

Skup
European Human Genetics Conference

Mjesto i datum
Amsterdam, Nizozemska, 28.05.2011. - 31.05.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Beckwith Wiedemann syndrome

Sažetak
Beckwith Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by growth disregulation, risk of tumour development and congenital anomalies. In this study we analysed 197 patients registered in EUROCAT network of congenital anomaly registries in 1980-2007 period by monitoring population of 13 546 771 births. The prevalence was 1.45 per 100 000 births. Male to female ratio was 1.3:1. High proportion of patients was diagnosed by prenatal ultrasound examination (70/166 ; 42.1%), 41 patient was discovered at birth (41/166 ; 24.69%) and 55 patients (33.3%) were diagnosed during the first month of life. Most patients were live births (177/197 ; 89.8%), eight were stillbirths (8/166 ; 4.81%), and twelve pregnancies were terminated after prenatal diagnosis (12/70 ; 17.4%) due to heart, kidney or limb anomalies. Seven live births didn’t survive the first week of life (7/177 ; 3.9%). In 148 (75.12 %) of patients major malformations were present, with the hallmarks of the syndrome, omphalocele (54.72% ; 81/148) and macroglossia (52.7% ; 78/148), being the most common. Other associated anomalies were present in 68 (46%) patients: cardiovascular in 20.28 % (30/148), urinary in 17.56% (26/148), limb defects in 9.15% (14/148), and central nervous system malformations and cleft lip in 2.0% (3/148). In thirteen patients more than one congenital anomaly was present. In conclusion, with estimated frequency of 1 in 69930 births, BWS is a rare congenital anomaly disorder, often associated with major congenital anomalies. Pregnancies that are carried out to term mainly result in live births with high survival rate.

Izvorni jezik
Engleski

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