Article ID Journal Published Year Pages File Type
8690955 Seminars in Pediatric Neurology 2018 21 Pages PDF
Abstract
Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe 2 children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic disorders, Adams-Oliver syndrome and Aicardi-Goutieres syndrome. Differentiating genetic conditions from intrauterine infections or other causes of intracranial calcifications enables practitioners to provide accurate counseling regarding prognosis and recurrence risk.
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Life Sciences Neuroscience Developmental Neuroscience
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