2007-11-02-09 Partial agenesis of the corpus callosum and cleft lip © Cuillier www.thefetus.net/
Partial agenesis of the corpus callosum and cleft-lip
Fabrice Cuillier, MD*; J. Chouchani, MD**; Abdou, MD.
* Department of Gynecology, Felix Guyon Hospital, 97400 Saint- Denis, Ile de la Reunion, France; tel: 0262 90 55 22; fax : 0262 90 77 30;
** Department of Gynecology, Gabriel Martin’ Hospital, 97400 Saint-Denis, Ile de la Reunion.
This is a 35-year-old-woman, G5P4, referred to our antenatal unit at 34 weeks of pregnancy. Her first and second trimester screenings were not done. At 34 weeks we found following findings:
bilateral cerebral ventriculomegaly (14 mm) and dilatation of the third ventricle;
unilateral cleft lip;
hypoplastic corpus callosum.
An amniocentesis was done and revealed normal karyotype (46, XX). Serological tests (Toxoplasmosis, Rubeola, CMV, Herpes and Chikungunya) were also normal. At 36 weeks an MRI was performed and confirmed the cerebral findings. No other associated anomalies were seen. The parents opted for the continuation of the pregnancy. At 37 weeks the width of the lateral ventricles was 13 mm. The neonate was delivered at 37 weeks and the cerebral diagnosis was confirmed. Additionally an unilateral choanal atresia and a coloboma of one eye were found. The diagnosis of the CHARGE syndrome was eliminated; there was no mutation in the CHD7 gene. We were not able to find a more accurate name of a syndrome standing behind the findings ("pseudo-CHARGE" syndrome?).
Images 1, 2: Transverse scans of the fetal head showing the dilated lateral and third ventricles. The cavum septum pellucidum is missing.
Image 3: Sagittal scan of the fetal head showing partial agenesis of the corpus callosum (the corpus callosum is hardly visible and the gyri have radial arrangement).
Images 4, 5: Fetal lips with cleft.
Images 6, 7: 3D images showing the fetal lips with the cleft of the upper lip.
Images 8, 9: MRI images showing the fetal head with the partial agenesis of the corpus callosum.
Images 10, 11: MRI images showing the fetal head with the partial agenesis of the corpus callosum.
Images 12, 13: Postnatal appearance of the baby.
Image 14: Postnatal sagittal scan of the fetal head showing partial agenesis of the corpus callosum.
Images 21, 22: Postnatal radiograms showing the architecture of the nasal cavity and the hard palate.
Video 1: The video shows the cleft lip of the fetus (34 weeks of pregnancy).