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Am J Perinatol 1999; 16(1): 29-31
DOI: 10.1055/s-2007-993832
ORIGINAL ARTICLE

© 1999 by Thieme Medical Publishers, Inc.

Prader-Willi Syndrome Associated with Fetal Goiter: A Case Report

Robert M. Insoft1 , Jennifer Hurvitz3 , Elicia Estrella3 , Kalpathy S. Krishnamoorthy2
  • 1Neonatology Unit, Pediatric Service, Harvard Medical School, Boston, Massachusetts
  • 2Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts
  • 3Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts
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Publication History

Publication Date:
04 March 2008 (online)

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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

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