Article
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
American journal of medical genetics. Part A - 1 Aug 2019
Carter Lauren B, Battaglia Agatino, Cherry Athena, Manning Melanie A, Ruzhnikov Maura Rz, Bird Lynne M, Dowsett Leah, Graham John M, Alkuraya Fowzan S, Hashem Mais, Dinulos Mary Beth, Vallee Stephanie, Adam Margaret P, Glass Ian, Beck Anita E, Stevens Cathy A, Zackai Elaine, McDougall Carey, Keena Beth, Peron Angela, Vignoli Aglaia, Seaver Laurie H, Slavin Thomas P, Hudgins Louanne
Abstract excerpt
1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL). In a large series of these individuals by Battaglia et al., "birth history was notable in 50% of the cases for varying degrees of perinatal distress." Given the potential for perinatal distress, seizures and PVL, we...
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