Prader-Willi Syndrome Associated with Fetal Goiter: A Case Report
- 1 January 1999
- journal article
- case report
- Published by Georg Thieme Verlag KG in American Journal of Perinatology
- Vol. 16 (01) , 29-31
- https://doi.org/10.1055/s-2007-993832
Abstract
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.Keywords
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