BECKWITH-WIEDEMANN SYNDROME

A CASE REPORT

Abstract

Beckwith-Wiedemann Syndrome (BWS) is a rare congenital anomaly, with similar manifestation in both sexes and an approximate prevalence of 1/13,700 live births. The main characteristic of this condition is the alteration in the development of certain human organs, which results in growth abnormalities, such as macroglossia, gigantism, hemihyperplasia and visceromegaly, especially in the second half of pregnancy and in the first years of life. Case report: TVM, female, 26 years old. Patient underwent obstetric 4D US with a gestational age of 33 weeks (+/- 7 days). The presence of a projected tongue between the lips was noted, suggesting macroglossia and with a diagnostic hypothesis of Beckwith-Wiedemann Syndrome. Discussion: In the case reported, a SBW diagnosed with US 4D during the 33rd week of pregnancy was observed. Although not all criteria for BWS could be confirmed in the prenatal examination, the finding of a major sign of possible macroglossia - due to the presence of a projected tongue between the lips - suggested such a diagnostic hypothesis, which was confirmed after delivery. Conclusion: Through this case, we can observe that imaging tests, such as the US, are of great value, allowing not only to adequately advise the patient, but also to prepare adequate neonatal support at the time of delivery.