Naslov
Beckwith Wiedemann syndrome: clinical and epidemiological study of a large series of patients in Europe

Autori
Odak, Ljubica ; Barišić, Ingeborg ; Loane, M ; Calzolari, E ; Garne, E ; Wellesey, D ; Dolk, H ; EUROCAT Working group

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

Izvornik
7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts / - Zagreb : International Society for Applied Biological Sciences (ISABS), 2011, 294-294

Skup
Fifth Croatian Congress on Human Genetics satellite meeting of The Seventh ISABS Conference on Forensic, Anthropologic and Medical Genetics

Mjesto i datum
Bol, Hrvatska, 20.06.2011. - 24.06.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Beckwith Wiedemann syndrome ; epidemiology ; Europe

Sažetak
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by macroglossia, high birth weight, omphalocele, visceromegaly, hypoglycaemia, tumour predisposition, and congenital malformations. AIM: To determine relevant epidemiological and clinical characteristics in a large series of patients with BWS in Europe PATIENTS AND METHODS: We present clinical and epidemiological characteristics of 197 patients with BWS that were identified by retrospective analysis among 13 546 771 pregnancies that were monitored in EUROCAT network of population based registries in 1980-2007period. RESULTS: The clinical manifestations of BWS patients reflect the variable presentation of the syndrome. The infants had a high birth weight for their gestational age. Prematurity was present in 74/166 (44.57%) cases. The most frequent features were omphalocele (54.72% ; 81/148) and macroglossia (52.7% ; 78/148). Associated anomalies were present in 68 (46%) patients and included mainly cardiovascular (30/148 ; 20.28 %), urinary (26/148 ; 17.56%) and limb defects (14/148 ; 9.15%). Of the 70 cases detected prenatally, 12 (17.1%) were terminated due to severe anomalies. The overall recorded number of late foetal deaths/stillbirths with BWS was 8, and of deaths in the first week of life 7, resulting in a total perinatal mortality rate associated with BWS of 76.14 per 1000 births. The minimal estimated prevalence rate of BWS in Europe is 1 in 69930 births. All cases were sporadic. CONCLUSION: Beckwith Wiedemann syndrome is a rare disorder. Presence of various associated anomalies decreases overall first week survival rate in this patients to 86.14% (170/197).

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA