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

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)108-110
Number of pages3
JournalActa Paediatrica Taiwanica
Volume45
Issue number2
Publication statusPublished - 2004 Mar 1

Fingerprint

Prader-Willi Syndrome
Early Diagnosis
Muscle Hypotonia
Newborn Infant
Small Nuclear Ribonucleoproteins
DNA Methylation
Obesity
Morbidity
Peptides
Mortality
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

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.
Chen, Chun Jung ; Hsu, Mu Ling ; Yuh, Yeong Seng ; Cheng, Shin Nan ; Kuo, Pao-Lin ; Lee, Chuen Ming. / Early diagnosis of Prader-Willi syndrome in a newborn. In: Acta Paediatrica Taiwanica. 2004 ; Vol. 45, No. 2. pp. 108-110.
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Chen, CJ, Hsu, ML, Yuh, YS, Cheng, SN, Kuo, P-L & Lee, CM 2004, 'Early diagnosis of Prader-Willi syndrome in a newborn', Acta Paediatrica Taiwanica, vol. 45, no. 2, pp. 108-110.

Early diagnosis of Prader-Willi syndrome in a newborn. / Chen, Chun Jung; Hsu, Mu Ling; Yuh, Yeong Seng; Cheng, Shin Nan; Kuo, Pao-Lin; Lee, Chuen Ming.

In: Acta Paediatrica Taiwanica, Vol. 45, No. 2, 01.03.2004, p. 108-110.

Research output: Contribution to journalArticle

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Chen CJ, Hsu ML, Yuh YS, Cheng SN, Kuo P-L, Lee CM. Early diagnosis of Prader-Willi syndrome in a newborn. Acta Paediatrica Taiwanica. 2004 Mar 1;45(2):108-110.