%0 Journal Article
%T 儿童Prader-Willi综合征合并扩张性心肌病一例<br>A Case of Prader-Willi Syndrome with Dilated 
Cardiomyopathy
%A 刘栋
%A 赵映敏
%J Asian Case Reports in Pediatrics
%P 57-59
%@ 2328-0441
%D 2013
%I Hans Publishing
%R 10.12677/ACRP.2013.14015
%X <span style=\"font-size:10pt;\">Prader-Willi</span><span style=\"font-size:10pt;font-family:宋体;\">综合征是<span>由于</span></a></span><span><span><span style=\"font-size:10pt;\">15</span></span></span><span><span><span style=\"font-size:10pt;font-family:宋体;\">号染色体长臂特异区基因缺失或母源二倍体所致</span></span></span><span style=\"font-size:10pt;font-family:宋体;\">，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</span><span style=\"font-size:10pt;\">Prader-Willi </span><span style=\"font-size:10pt;font-family:宋体;\">综合征合并扩张性心肌病一例，并探讨</span><span style=\"font-size:10pt;\">Prader-Willi</span><span style=\"font-size:10pt;font-family:宋体;\">综合征的临床表现及遗传学特征</a>、治疗方案，<span>及与扩张性心肌病之间的关联。<br />
<b><span style=\"font-size:10pt;font-family:'Times New Roman','serif';\"><span>&nbsp;</span></span></b><span style=\"font-size:10pt;font-family:'Times New Roman','serif';\">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.</span></span></a></span><span><span><span style=\"font-size:10pt;font-family:宋体;\"></span></span></span>
%K Prader-Willi综合征；基因组印记；基因缺失；生长激素；扩张性心肌病<br>Prader-Willi Syndrome
%K Genomic Imprinting
%K Gene Deletion
%K Growth Hormone
%K Dilated Cardiomyopathy
%U http://www.hanspub.org/journal/PaperInformation.aspx?PaperID=12455