engleski

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

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).

Beckwith Wiedemann syndrome ; epidemiology ; Europe

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