Eur J Med Genet 2022 May 1;65(5):104501. Epub 2022 Apr 1.
Department of Fetal Medicine & Medical Imaging, Corniche Hospital, Abu Dhabi, United Arab Emirates; College of Medicine and Health Sciences, Khalifa University, Abu Dhabi, United Arab Emirates.
We report on three male siblings who presented prenatally with a nearly identical combination of congenital anomalies and who died shortly after preterm birth. The first baby was a singleton pregnancy, and the other two babies were dichorionic diamniotic twins. Key features included: left-sided congenital diaphragmatic hernia, inferior vermian dysgenesis/hypoplasia, prenasal edema, cleft palate, micropenis/ambiguous genitalia (in 2 of 3 babies), bilateral renal pelvic dilatation (in twins, first baby showed slightly enlarged kidneys) and polyhydramnios (in 2 of 3). Read More