Prenatal diagnosis of lissencephaly
- 1 March 1991
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 11 (3) , 139-143
- https://doi.org/10.1002/pd.1970110302
Abstract
We report two cases of prenatal detection of lissencephaly by high‐resolution ultrasound. The first case studied was referred for high‐risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality. Diagnosis of a smooth gyral pattern consistent with lissencephaly was made at 32 weeks' gestation. The second case was referred for prenatal ultrasound because of a size versus dates discrepancy. The ultrasound examination showed a smooth gyral pattern at 31.5 weeks. In light of this ultrasound finding, a fetal blood sample was obtained and a chromosomal abnormality reported, confirming the diagnosis. To our knowledge, these cases represent the first report of the sonographic prenatal diagnosis of cerebral agyria or lissencephaly.Keywords
This publication has 9 references indexed in Scilit:
- DISORDERS OF NEURONAL MIGRATION: SONOGRAPHIC FEATURESDevelopmental Medicine and Child Neurology, 1986
- Miller-Dieker syndrome: a disorder affecting specific pathways ofneuronal migrationNeurology, 1986
- Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17American Journal of Medical Genetics, 1986
- Unbalanced translocation (15;17)(q13;p13.3) with apparent Prader‐Willi syndrome but without Miller‐Dieker syndromeAmerican Journal of Medical Genetics, 1985
- New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13Human Genetics, 1984
- Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephalyAmerican Journal of Medical Genetics, 1984
- Sonographic demonstration of lissencephaly (agyria).Journal of Ultrasound in Medicine, 1983
- A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndromeThe Journal of Pediatrics, 1983
- Miller-Dieker syndrome: Lissencephaly andmonosomy 17pThe Journal of Pediatrics, 1983