BECKWITH-WIEDEMANN SYNDROME, PLACENTAL ABNORMALITIES, AND GESTATIONALPROTEINURIC HYPERTENSION

Background: Beckwith-Wiedemann syndrome is a genetically complex conge nital disorder with variable clinical features at birth, including mal formations, excessive body and/or organ growth, and endocrine dysfunct ion. Both maternal gestational proteinuric hypertension and placental abnormalities have been reported infrequently in Beckwith-Wiedemann sy ndrome, but the occurrence of three cases with both features at one in stitution within a year suggests that this may be an underreported ass ociation. Cases: Severe gestational proteinuric hypertension in three women led to termination of one pregnancy at 22 weeks' gestation, deli very by cesarean in another at 27 weeks of an infant who had hyperinsu linism and riled at age 3 days, and stillbirth at 31 weeks in the thir d. All three infants had features diagnostic of Beckwith-Wiedemann syn drome. Placentomegaly had been identified by ultrasound in each case a nd was determined pathologically as mainly attributable to stromal exp ansion of the villous tree. Cysts resulting from hydrops in stem villi were identified ultrasonographically in one placenta; this lesion may be specific for Beckwith-Wiedemann syndrome. The third placenta was a ssociated with a discrete complete hydatidiform male. Conclusions: A d iagnosis of Beckwith-Wiedemann syndrome should be considered in all ca ses in which gestational proteinuric hypertension is associated with u ltrasound findings of placentomegaly, with or without associated cysti c changes in the placenta, and an examination should be made for other confirmatory features.