Prader-Willi syndrome associated with fetal goiter: a case report.
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.
Insoft
R M
RM
Neonatology Unit, Pediatric Service, Massachusetts General Hospital, Harvard Medical School, Boston, 02114, USA.
Hurvitz
J
J
Estrella
E
E
Krishnamoorthy
K S
KS
D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D005500:Follow-Up Studies; D006042:Goiter / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal