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Case Reports in Pediatrics
Volume 2011, Article ID 981941, 3 pages
http://dx.doi.org/10.1155/2011/981941
Case Report

Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

1Centro di Coordinamento Regionale Malattie Rare, Azienda Ospedaliera Universitaria S. Maria della Misericordia di Udine, Piazzale S. Maria della Misericordia, 33100 Udine, Italy
2S.C. di Neonatologia e Terapia Intensiva Neonatale, IRCCS-Burlo Garofolo, Università degli Studi di Trieste, 34100 Trieste, Italy
3S.C. Laboratorio di Genetica Medica, IRCCS-Burlo Garofolo, Università degli Studi di Trieste, 34100 Trieste, Italy

Received 24 May 2011; Accepted 4 July 2011

Academic Editors: R. S. Procianoy and B. Resch

Copyright © 2011 G. Ciana et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS.