Jeune syndrome is a ciliary disorder characterized by short ribs, polydactyly, and multisystem organ abnormalities. This is a case report of a fetus terminated at 19 weeks of gestation because of short limbs, short ribs, and ascites. The fetus was found to have different mutations in both alleles of the DYNC2H1 and was diagnosed as having Jeune syndrome (MIM #613091) caused by compound heterozygotes. We present and describe skeletal images at 18 weeks of gestation recorded using three-dimensional sonography and helical computed tomography.
A bipartite placenta develops in 3% of monochorionic diamniotic twin pregnancies. It initially resembles a dichorionic placenta on ultrasonography, but has one chorionic and two amniotic membranes. Almost all monochorionic diamniotic twin placentae have intertwin vascular anastomoses. Older case reports have recorded cases of bipartite placenta in monochorionic diamniotic twins, with vascular anastomoses between the two fetuses－a finding considered to be a reliable marker of a monochorionic placenta. We report two cases of monochorionic diamniotic twin pregnancies, presenting with separate placental masses, and without any intertwin vascular anastomoses. Histological examination revealed a monochorionic and diamniotic intertwin membrane, but a dye injection study in each case demonstrated a complete absence of vascular anastomoses between the two parts of the placenta.