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Prader-Willi Syndrome Associated with Fetal Goiter: A Case Report
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1999
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Down SyndromeDevelopmental AnomalyMendelian DisorderGenetic DisorderPrader-willi SyndromePediatricsCongenital DisordersThyroid DisordersNeonatal Thyroid AbnormalitiesFetal ComplicationFetal GoiterAbnormal DevelopmentNeuropathologyMedicineCase Report
We describe a unique case of a newborn with Prader-Willi syndrome who presented with fetal goiter as well as neonatal thyroid abnormalities, marked hypotonia, and thrombocytopenia. These new clinical observations may correlate with the uniparental monodisomy form of inheritance of this genetic condition.