The neonatal presentation of Prader-Willi syndrome revisited  

Oleh:

Miller, Steven P. ; Riley, Patricia ; Shevell, Michael I.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of Pediatrics vol. 135 no. 02 (Feb. 1999), page 226-228.
Topik: FISH ; Fluorescent in situ hybridization; NMS ; Nerve-muscle-skin; PWS ; Prader-Willi syndrome; SNRPN ; Small nuclear ribonucleoprotein polypeptide N

Ketersediaan

Perpustakaan FK Nomor Panggil: J45.K.1999.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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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