دورية أكاديمية
L1CAM variants cause two distinct imaging phenotypes on fetal MRI
| العنوان: | L1CAM variants cause two distinct imaging phenotypes on fetal MRI |
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| المؤلفون: | Accogli, A., Goergen, S., Izzo, G., Mankad, K., Krajden Haratz, K., Parazzini, C., Fahey, M., Menzies, L., Baptista, J., Carpineta, L., Tortora, D., Fulcheri, E., Gaetano Vellone, V., Paladini, D., Spaccini, L., Toto, V., Trayers, C., Ben Sira, L., Reches, A., Malinger, G., Salpietro, V., De Marco, P., Srour, M., Zara, F., Capra, V., Rossi, A., Severino, M. |
| بيانات النشر: | Wiley |
| سنة النشر: | 2021 |
| المجموعة: | RD&E Research Repository (Royal Devon and Exeter NHS Foundation Trust) |
| الوصف: | 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. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing. ; The article is available via Open Access. Click on the 'Additional link' above to access the full-text. ; Published version, accepted version, submitted version |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 34510796 |
| العلاقة: | https://doi.org/10.1002/acn3.51448Test; Ann Clin Transl Neurol. 2021 Sep 12. doi:10.1002/acn3.51448.; https://rde.dspace-express.com/handle/11287/622130Test; Annals of clinical and translational neurology |
| DOI: | 10.1002/acn3.51448 |
| الإتاحة: | https://doi.org/10.1002/acn3.51448Test https://rde.dspace-express.com/handle/11287/622130Test |
| حقوق: | © 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. ; http://creativecommons.org/publicdomain/zero/1.0Test/ |
| رقم الانضمام: | edsbas.8397ED3F |
| قاعدة البيانات: | BASE |
| تدمد: | 34510796 |
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| DOI: | 10.1002/acn3.51448 |