Prader-Willi syndrome (PWS) is usually diagnosed after the infantile period because the core features evolve with time and are usually subtle and are thus insufficient to meet the consensus diagnostic criteria before the age of 1 year. We report on a patient diagnosed with PWS during the neonatal period. The patient presented with poor feeding and activity, generalized hypotonia, and bilateral undescended testes. He was subsequently proven to have PWS because of the loss of a 100-bp paternal-specific band within the methylation-specific PCR amplifying promoter/exon 1 region of the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene.
|Number of pages||4|
|Publication status||Published - 2002 Dec 1|
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health