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

Robert M. Insoft; Jennifer Hurvitz; Elicia Estrella; Kalpathy S. Krishnamoorthy

doi:10.1055/s-2007-993832

American Journal of Perinatology, Inhaltsverzeichnis

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

ORIGINAL ARTICLE

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

Abstract

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

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