The neonatal presentation of Prader-Willi syndrome revisited
- PMID: 9931534
- DOI: 10.1016/s0022-3476(99)70420-8
The neonatal presentation of Prader-Willi syndrome revisited
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.
Comment in
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Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy.J Pediatr. 2000 Jan;136(1):135-6. doi: 10.1016/s0022-3476(00)90076-3. J Pediatr. 2000. PMID: 10636995 Free PMC article. No abstract available.
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