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Prenatal sonographic diagnosis of Dandy‐Walker malformation and type III lissencephaly: A novel association
Author(s) -
Darouich Sihem,
Amraoui Jihen,
Amraoui Naima
Publication year - 2020
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.22805
Subject(s) - medicine , hydranencephaly , single umbilical artery , lissencephaly , autopsy , hypoplasia , anatomy , pathology , fetus , pregnancy , biochemistry , genetics , chemistry , biology , gene
Dandy‐Walker malformation (DWM) may occur as part of Mendelian disorders such as Walker–Warburg and Meckel–Gruber syndromes. We report a novel association with type III lissencephaly in a 22‐week male fetus. Ultrasound showed fetal akinesia deformation sequence, single umbilical artery, microlissencephaly, hydranencephaly with cerebral lamination, DWM, and pontocerebellar hypoplasia. These abnormalities were confirmed by magnetic resonance imaging and autopsy, which also revealed pulmonary and adrenal hypoplasia, common mesentery and bilateral uretero‐pyelo‐calyceal dilatation. Neuropathological examination showed brain calcifications and diffuse neuronal degeneration. We conclude that DWM may be a feature of type III lissencephaly and that this association can be easily diagnosed by ultrasound.