EP09.04: Solitary median maxillary central incisor syndrome (SMMCI) in association with agenesis of the corpus callosum

Abstract

Objectives:To assess the feasibility of detection of fetal zygoma and to apply it in the evaluation of fetal mandibular anomaly. Methods: From 12-24 weeks of gestation using trans vaginal and abdominal probes, volume contrast imaging (VCI) OMNI view was applied parallel to the ear and orbit in a plane capturing the temporal bone and the zygomatic arch for the detection of the zygomatic bone. The examination was also conducted in all cases referred for evaluation of fetal mandibular anomalies. Results: 50 fetuses with normal profile were assessed for fetal zygoma from 12 to 24 weeks of gestation. In all cases the zygoma was detected by using VCI Omni View. Eight fetuses referred for mandibular anomaly in the study period. In 7 fetuses the fetal zygoma was detected. Four cases of with Pierre Robin sequence continued pregnancy and three cases with additional malformations terminated the pregnancies. One fetus referred due to suspected isolated retognathia at 15 weeks the zygomatic bone could not be detected. As Treacher-Collins was suspected parents opt to terminate the pregnancy. Conclusions: Fetal zygoma is feasible to detect from 12 weeks of gestation by using volume contrast imaging (VCI) OMNI view. We suggests to assess this facial bone in cases referred for mandibular anomalies as its absence or presence may assist in the differential diagnosis of mandibular anomalies. Objectives: The Chiari II malformation is known for its spinal defect, the small posterior fossa, hindbrain displacement, and developing hydrocephalus. Subependymal heterotopia have so far been reported in postnatal studies only. The aim of this study was to determine the incidence, number, size and location of subependymal heterotopic nodules on magnetic resonance imaging (MRI) images of fetuses with the Chiari II malformation. Methods: Fetal MRI studies of 85 fetuses (19-39 gestational weeks (GW)) were retrospectively evaluated for the presence, number, size and location of subependymal heterotopic nodules. Imaging was performed on a 1.5 Tesla magnet and protocols included three planes of T2-weighted and/or steady-state free-precession sequences through the fetal head. In 25 cases postnatal (17) or postmortem MRI examinations (8) were available. Results: The overall incidence of subependymal heterotopia was 39% in the fetal population, the youngest fetus presenting with heterotopic nodules was 20 GW old. The heterotopic nodules were predominantly located bilaterally (55%), the majority were detected in the lateral wall of the central and occipital parts of the lateral ventricles. The number of heterotopic nodules varied from 1 to 12 in the fetal and postnatal MRI group, and from 8 to 22 in the postmortem MRI group. The size of the largest nodule measured 6 x 3 mm in the fetal and postmortem MRI groups, and 10 x 3 mm in the postnatal MRI group. The fetal MRI findings corresponded to the postmortem MRI findings in all eight cases. Out of the 7 cases with heterotopia found in the postnatal follow up, four were seen on fetal MRI. Conclusions: Sub...