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- W2034843415 abstract "Agenesis of the corpus callosum (ACC) is an abnormality of brain development characterized by the complete absence of the corpus callosum. It occurs about 9th–16th weeks of gestation and can be detected prenatally. Agenesis of the corpus callosum is hereditary in isolation or as part of a syndrome, but often assumed to be sporadic and sometimes associated with chromosome aberrations. To identify and characterize both neural and extra-neural malformations associated with ACC. A 36-year-old pregnant female was referred at 18 weeks' gestation for a routine prenatal ultrasound. Fetal monitoring was made by ultrasound scans for fetal growth, congenital malformations, and amniotic fluid volume. We also collected information about family medical history. Amniotic fluid samples were taken to perform prenatal cytogenetic diagnosis. Ultrasound examination revealed a singleton pregnancy with multiple congenital malformations. Image diagnosis showed that the pregnant woman had uterus didelphys. At 20 weeks, repeat ultrasonic examination was performed to confirm dates and search for fetal anomalies. ACC was associated with others CNS anomalies as gyral anomalies, pyramidal tract abnormalities, hypoplastic olfactory tracts and bulbs, and cerebellar hypoplasia. Extra-CNS malformations included craniofacial defects, anomalies of limbs and ribs, gastrointestinal defects and cardiovascular defects. Many of the same malformations are also seen in trisomy 13 or trisomy 18. Karyotype indicated a normal cytogenetic female: 46, XX. The pregnancy was terminated at 23 weeks of gestation. Autopsy findings confirmed the ultrasound diagnosis. The next two pregnancies showed the same pattern of anomalies associated with ACC. An unusual pattern of anomalies associated with fetal ACC was identified and described; recurrent fetal ACC was shown in the next two pregnancies." @default.
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- W2034843415 date "2008-08-01" @default.
- W2034843415 modified "2023-09-23" @default.
- W2034843415 title "P27.04: Antenatal ultrasound detection of an unusual pattern of anomalies associated with fetal agenesis of the corpus callosum - case report" @default.
- W2034843415 doi "https://doi.org/10.1002/uog.5934" @default.
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