Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

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 th...

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Veröffentlicht in:	American journal of medical genetics. Part A 2019-08, Vol.179 (8), p.1543-1546
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	1p36 Brain damage Cognitive ability distress Encephalopathy Hypoxia hypoxic ischemic encephalopathy Ischemia Medical records Neuroimaging Patients Periventricular leukomalacia Phenotypes Seizures Substantia alba
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