The neonatal presentation of Prader-Willi syndrome revisited.
case_series · Level IV
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- Record sourced from PubMed, PMID 9931534.
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Abstract
We describe 6 newborns evaluated for hypotonia, later diagnosed with Prader-Willi syndrome despite the absence of the classical neonatal features of this syndrome. Specific genetic testing for Prader-Willi syndrome should be considered for all neonates with undiagnosed central hypotonia even in the absence of the other major features of this syndrome.
Medical subject headings
- Prader-Willi Syndrome