Journal article

The spectrum of brain malformations and disruptions in twins

Kaylee B Park, Teresa Chapman, Kimberly A Aldinger, Ghayda M Mirzaa, Jordan Zeiger, Anita Beck, Ian A Glass, Robert F Hevner, Anna C Jansen, Desiree A Marshall, Renske Oegema, Elena Parrini, Russell P Saneto, Cynthia J Curry, Judith G Hall, Renzo Guerrini, Richard J Leventer, William B Dobyns

American Journal of Medical Genetics Part A | WILEY | Published : 2020


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 Institute of Child Health and Human Development

Awarded by National Institute of Neurological Disorders and Stroke

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