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.
Prader-Willi Syndrome - fetal goiter - neonatal thyroid abnormalities - hypotonia
- thrombocytopenia
