title: Early diagnosis of Prader-Willi syndrome in a newborn.
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.
authors.affiliation: Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
authors.forename: Chun-Jung
authors.initials: CJ
authors.lastname: Chen
authors.forename: Mu-Ling
authors.initials: ML
authors.lastname: Hsu
authors.forename: Yeong-Seng
authors.initials: YS
authors.lastname: Yuh
authors.forename: Shin-Nan
authors.initials: SN
authors.lastname: Cheng
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
authors.forename: Chuen-Ming
authors.initials: CM
authors.lastname: Lee
mesh_terms: D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology; D011218:Prader-Willi Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013997:Time Factors