Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene.

We present a 30-year-old woman with a twin pregnancy, 1 fetus displaying a small head circumference, semilobar holoprosencephaly, and cleft lip as detected by ultrasound at 23 weeks of gestation. Fetal magnetic resonance imaging confirmed the diagnosis of semilobar holoprosencephaly. The other twin, however, had an appropriate fetal growth, devoid of any… CONTINUE READING