The neonatal presentation of Prader-Willi syndrome revisited.

Miller, S P; Riley, P; Shevell, M I · J Pediatr · 1999

case_series · Level IV

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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.

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