Article
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Annals of clinical and translational neurology - 1 Oct 2021
Accogli Andrea, Goergen Stacy, Izzo Giana, Mankad Kshitij, Krajden Haratz Karina, Parazzini Cecilia, Fahey Michael, Menzies Lara, Baptista Julia, Carpineta Lucia, Tortora Domenico, Fulcheri Ezio, Gaetano Vellone Valerio, Paladini Dario, Spaccini Luigina, Toto Valentina, Trayers Claire, Ben Sira Liat, Reches Adi, Malinger Gustavo, Salpietro Vincenzo, De Marco Patrizia, Srour Myriam, Zara Federico, Capra Valeria, Rossi Andrea, Severino Mariasavina
Abstract excerpt
Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic-mesencephalic junction dysplasia and brainstem kinking....
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