ReviewRevista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia2016
Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature.
Review in Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 17 citations in OpenAlex.
- Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance.Biomedicines · 2025Article
- Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review.Radiology case reports · 2024Article
- Role of Physiotherapy in Pediatric Lissencephaly: A Case Report and Therapeutic Insights.Cureus · 2024Article
- Development of the prosencephalic structures, ganglionic eminence, basal ganglia and thalamus at 11 + 3 to 13 + 6 gestational weeks on 3D transvaginal ultrasound including normative data.Brain structure & function · 2023Article
- A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene.Clinical case reports · 2021Article
- In utero MR imaging in fetuses at high risk of lissencephaly.The British journal of radiology · 2017Observational
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Authors and funding
4 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible by demonstrating abnormal development of sulci and gyri. Magnetic resonance imaging (MRI) may enhance detection of developmental cortical disorders as well as ocular anomalies. We describe a case of early diagnosis of lissencephaly type 2 detected at the time of routine second trimester scan by three-dimensional ultrasound and fetal MRI. Gross pathology confirmed the accuracy of the prenatal diagnosis while histology showed the typical feature of cobblestone cortex. As the disease is associated with poor perinatal prognosis, early and accurate prenatal diagnosis is important for genetic counseling and antenatal care.
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