Journal article
The spectrum of brain malformations and disruptions in twins
KB Park, T Chapman, KA Aldinger, GM Mirzaa, J Zeiger, A Beck, IA Glass, RF Hevner, AC Jansen, DA Marshall, R Oegema, E Parrini, RP Saneto, CJ Curry, JG Hall, R Guerrini, RJ Leventer, WB Dobyns
American Journal of Medical Genetics Part A | WILEY | Published : 2021
DOI: 10.1002/ajmg.a.61972
Abstract
Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). The MCD group included 37/39 (95%) with polymicrogyria (PMG), 8/39 (21%) with pia-ependymal clefts (schizencephaly), and 15/39 (38%) with periventricular nodular heterotopia (PNH) including 2 with PNH but no..
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Awarded by National Institutes of Health
Funding Acknowledgements
National Institute of Child Health and Human Development, Grant/Award Number: R24HD000836; National Institute of Neurological Disorders and Stroke, Grant/Award Numbers: K08NS092898, 5R01NS050375; The Philly Baer Foundation; The Dandy-Walker Alliance