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Article

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome.

Orphanet journal of rare diseases - 28 Jun 2017

Bar Céline, Diene Gwenaelle, Molinas Catherine, Bieth Eric, Casper Charlotte, Tauber Maithé

Abstract excerpt

BACKGROUND: PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS: Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 and 2013 in France. RESULTS: Thirty-eight infants with PWS were born in 2013. The median age at...

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Identifiers

PMID: 28659150
DOI: 10.1186/s13023-017-0673-6
PMCID: PMC5490212

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