Pediatrics. 2011 Jan;127(1):195-204. doi: 10.1542/peds.2010-2820. Epub 2010 Dec 27.
This set of guidelines was designed to assist the pediatrician in caring for children with Prader-Willi syndrome diagnosed by clinical features and confirmed by molecular testing. Prader-Willi syndrome provides an excellent example of how early diagnosis and management can improve the long-term outcome for some genetic disorders.
本指南旨在帮助儿科医生照顾通过临床特征诊断和分子检测证实的 Prader-Willi 综合征患儿。Prader-Willi 综合征为临床医生提供了一个极好的范例,证明了早期诊断和管理可改善某些遗传疾病的长期预后。