标题:
儿童Prader-Willi综合征合并扩张性心肌病一例A Case of Prader-Willi Syndrome with Dilated
Cardiomyopathy
作者:
刘栋, 赵映敏
关键字:
Prader-Willi综合征, 基因组印记, 基因缺失, 生长激素, 扩张性心肌病Prader-Willi Syndrome; Genomic Imprinting; Gene Deletion; Growth Hormone; Dilated Cardiomyopathy
期刊名称:
《Asian Case Reports in Pediatrics》, Vol.1 No.4, 2013-10-09
摘要:
Prader-Willi综合征是由于15号染色体长臂特异区基因缺失或母源二倍体所致，其共同的临床表现为新生儿期肌张力低下，儿童期肥胖，智力低下，青春期无性发育，身材矮小。本文报道儿童Prader-Willi 综合征合并扩张性心肌病一例，并探讨Prader-Willi综合征的临床表现及遗传学特征、治疗方案，及与扩张性心肌病之间的关联。
Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal long arm of chromosome 15 or by maternal disomy in the proximal long arm of chromosome 15. Commonly associated characteristics of this disorder include diminished fetal activity, hypotonia, obesity, mental retardation, short stature, hypogonadism, and small hands and feet. We report a case of Prader-Willi syndrome with dilated cardiomyopathy, and review its Clinical manifestations, genetic characteristics and treatment method, then analysis the relation with the di- lated cardiomyopathy.