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Prader-Willi syndrome associated with fetal goiter: a case report
R M Insoft1, J Hurvitz, E Estrella
1Neonatology Unit, Pediatric Service, Massachusetts General Hospital, Harvard Medical School, Boston, 02114, USA.
American Journal of Perinatology
|June 11, 1999
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.