Case report: pontocerebellar hypoplasia type 1D
نویسندگان
چکیده
Case presentation: This report aims to describe the case of a patient with rare diagnosis type 1D pontocerebellar hypoplasia (PCH1D), resulting from alteration EXOSC9 gene. G. T. S. D. S., male, 1 year and 2 months old, fruit unplanned pregnancy non-consanguineous parents. Prenatal care was complete. The born by vaginal delivery without complications, 36 weeks 6 days gestational age, following measurements: height = 44.5 cm; weight 2,660 kg; head circumference 33.8 cm.
منابع مشابه
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ژورنال
عنوان ژورنال: Arquivos De Neuro-psiquiatria
سال: 2023
ISSN: ['1678-4227', '0004-282X']
DOI: https://doi.org/10.1055/s-0043-1774574