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Prenatal Sonogra phic Evaluation of Beckwith-Wiedemann Syndrome

Glenn A. Rouse, MD

Department of Diagnostic Ultrasound, Loma Linda University Medical Center, Loma Linda, California

Marie de Lange, BS, RDMS, RDCS

Department of Diagnostic Ultrasound, Loma Linda University Medical Center, 11234 Anderson Street, Loma Linda, CA 92354

Beckwith-Wiedemann syndrome (BWS) was first described by Beckwith in 1963 and Wiedemann in 1964 as a syndrome of macroglossia, visceromegaly,. omphalocele, gigantism, and neonatal hypoglycemia. Additonal features of the syndrome, which occurs in approximately 1 in every 14,000 births, have been subsequently described. The authors report 2 cases of fetal BWS observed sonographically, and review 16 previously reported cases. Pohydramnios and growth acceleration may occur before 20 weeks, but macrlossia has not been reported before 28.5 weeks. Searching for ear creases in a fetus with suspected BWS may be merited, but visualization of normal ear lobes does not exclude the possibility of BWS.

Key Words: Beckwith-Wiedemann syndrome • sonography • estimated fetal weight • omphalocele • macroossia • nephromegly • polyhydramnios • neoplasia • chromosome 11

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