Prenatal diagnosis of lissencephaly: Miller‐Dieker syndrome

Prenatal ultrasound findings of lissencephaly associated with Miller–Dieker syndrome and comparison with pre‐ and postnatal magnetic resonance imaging

“…Additional intracranial findings in our patients were ventriculomegaly and dysgenesis of the corpus callosum. Ventriculomegaly is a non‐specific finding12, 16. However, it is an important marker and common prenatal ultrasound finding in fetuses with MDS‐associated lissencephaly.…”

“…Prenatal ultrasound findings in fetuses with MDS have been described in several case reports. These findings include a smooth gyral pattern, ventriculomegaly, large subarachnoid space, polyhydramnios, intrauterine growth restriction, congenital heart defect and omphalocele9–12. The ultrasound diagnosis of lissencephaly associated with MDS was first established in two fetuses at 31 weeks' and 31.5 weeks' gestation, based on the specific finding of a smooth gyral pattern10.…”

Prenatal diagnosis of malformations of cortical development by dedicated neurosonography

“…Although the migration process reaches its peak at around 20 weeks' gestation, there are only isolated case reports8–14 or small case series15–19 describing the prenatal ultrasonographic diagnosis of abnormal cortical development. This may be explained in some cases by the focal expression of the disorder, by the late appearance of significant morphological changes beyond the time of the recommended anatomic scan, by ultrasound evaluation of the brain frequently being limited to visualization of the lateral ventricles and cerebellum, and by incomplete knowledge of these entities and their ultrasonographic manifestations.…”

Prenatal Sonographic Features of Miller-Dieker Syndrome

“…They include CNS anomalies (ventriculomegaly, agyria or lissencephaly, abnormal sylvian fissures, agenesis or dysgenesis of corpus callosum, and microcephaly), intrauterine growth restriction (IUGR), polyhydramnios, cardiac anomalies, omphalocele, facial anomalies, and rare anomalies. [8] del(17p) Greenberg et al [9] del(17)(p13) Saltzman et al [10] del(17)(p13.3)mat (þ) del(17)(p13.3) (þ) Blass et al [11] del (17) [12] (À) [13] del(17)(p13.3)pat Holzgreve et al [14] (À) ( þ) McGahan et al [15] del(17)(p13.3) (þ) Chitayat et al [5] del (17) [16] (À) ( þ) ( þ) Fong et al [17] del (17) [18] (À) ( þ) ( þ) Lenzini et al [19] del (17)…”