Early diagnosis of Prader-Willi syndrome in a newborn

Chun Jung Chen, Mu Ling Hsu, Yeong Seng Yuh, Shin Nan Cheng, Pao Lin Kuo, Chuen Ming Lee

研究成果: Article

3 引文 斯高帕斯(Scopus)


Prader-Willi syndrome (PWS) is a multiple-systemic disorder with many manifestations related to hypothalamic insufficiency, with obesity and behavioral problems as the major causes of morbidity and mortality. We describe a 2-day-old boy who initially presented with neonatal hypotonia and was diagnosed as PWS based on abnormal DNA methylation patterns in the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene at the age of one week, despite the absence of other classical features. Molecular diagnosis for PWS, which has become available in recent years, should be considered for neonates with undiagnosed central hypotonia.

頁(從 - 到)108-110
期刊Acta Paediatrica Taiwanica
出版狀態Published - 2004 三月 1

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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    Chen, C. J., Hsu, M. L., Yuh, Y. S., Cheng, S. N., Kuo, P. L., & Lee, C. M. (2004). Early diagnosis of Prader-Willi syndrome in a newborn. Acta Paediatrica Taiwanica, 45(2), 108-110.