Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature

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dc.citation.issue4
dc.citation.volume38
dc.contributor.authorTonni, Gabriele
dc.contributor.authorPattacini, Pierpaolo
dc.contributor.authorBonasoni, Maria Paola
dc.contributor.authorAraujo Junior, Edward [UNIFESP]
dc.coverageRio De Janeiro Rj
dc.date.accessioned2020-08-21T16:59:46Z
dc.date.available2020-08-21T16:59:46Z
dc.date.issued2016
dc.description.abstractLissencephaly 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.en
dc.description.affiliationAUSL Reggio Emilia, Osped Civile Guastalla, Dept Obstet & Gynecol, Reggio Emilia, Italy
dc.description.affiliationIst Ricovero & Cura Carattere Sci IRCCS Arcispeda, Dept Diagnost Imaging, Reggio Emilia, Italy
dc.description.affiliationIst Ricovero & Cura Carattere Sci IRCCS Arcispeda, Dept Pathol, Reggio Emilia, Italy
dc.description.affiliationUniv Fed Sao Paulo, EPM Unifesp, Escola Paulista Med, Dept Obstet, Rua Napoleao Barros 875, BR-04024002 Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, EPM Unifesp, Escola Paulista Med, Dept Obstet, Rua Napoleao Barros 875, BR-04024002 Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent201-206
dc.identifierhttp://dx.doi.org/10.1055/s-0036-1582126
dc.identifier.citationRevista Brasileira De Ginecologia E Obstetricia. Rio De Janeiro Rj, v. 38, n. 4, p. 201-206, 2016.
dc.identifier.doi10.1055/s-0036-1582126
dc.identifier.fileS0100-72032016000400201.pdf
dc.identifier.issn0100-7203
dc.identifier.scieloS0100-72032016000400201
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/57758
dc.identifier.wosWOS:000410244900008
dc.language.isoeng
dc.publisherFederacao Brasileira Soc Ginecologia & Obstetricia-Febrasgo
dc.relation.ispartofRevista Brasileira De Ginecologia E Obstetricia
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectlissencephalyen
dc.subjectcobblestone cortexen
dc.subjectgenetic counselingen
dc.subjectmagnetic resonanceen
dc.subjectimagingen
dc.subjectpathologyen
dc.subjectprenatal diagnosisen
dc.subjectthree-dimensional ultrasounden
dc.titlePrenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literatureen
dc.typeinfo:eu-repo/semantics/article
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