Prenatal Sonographic Features of Beckwith-Wiedemann Syndrome

摘要: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome, characterized by macrosomia, macroglossia, organomegaly, abdominal wall defects, hemihy-pertrophy, ear creases/pits, neonatal hypoglycemia, adrenocortical cytomegaly, and an increased frequency of embryonal tumors. It known to be the result genetic epigenetic alterations on chromosome 11p15.5. Most affected cases are diagnosed after birth it difficult diagnose prenatally. Currently, ultrasound viewed as useful tool in prenatal detection cases. This article provides overview sonographic features BWS, including polyhydram-nios, omphalocele, enlarged placenta, urinary anomalies, gastrointestinal fetal hydrops other rare anomalies. Several diseases may have phenotypic overlaps with BWS Sotos Weaver Simpson-Golabi-Behmel diabetes pregnancy complicated infantile polycystic kidney disease. Increasing awareness knowledge various malformations will helpful early throughout gestation. Prenatal diagnosis fetuses could help obstetricians pediatricians decision-making process for prenatal, perinatal postnatal care.