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Case Reports
. 1999;16(1):29-31.
doi: 10.1055/s-2007-993832.

Prader-Willi syndrome associated with fetal goiter: a case report

R M Insoft  1 , J Hurvitz, E Estrella, K S Krishnamoorthy
Affiliations
Case Reports

Prader-Willi syndrome associated with fetal goiter: a case report

R M Insoft et al. Am J Perinatol. 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.

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