Prader-Willi综合征是导致人类肥胖的最常见遗传性综合征之一,但其发病率低,早期临床特征不典型,极易被漏诊、误诊.本文报道2例青春期儿童Prader-Willi综合征的临床表现及基因诊断结果,并结合病历资料对相关文献进行复习,阐述Prader-Willi综合征典型临床表现和最新治疗进展,以期引起临床医生的重视,为早期诊断、综合治疗提供支持.%Prader-Willi syndrome is one of the most common genetic syndromes that lead to human obesity. As its incidence is low and early clinical features are not typical,it is often misdiagnosed or missed. In order to increase the awareness of Prader-Willi syndrome in clinicians and provide support for early diagnosis and comprehensive treatment of the disease,we reported the clinical manifestations,genetic diagnosis of two adolescent children with Prader-Willi syndrome,and introduced the typical clinical features of Prader-Willi syndrome and the latest developments in the treatment for it based on the review of the related literature.
展开▼
