ACRP  >> Vol. 1 No. 4 (November 2013)

    A Case of Prader-Willi Syndrome with Dilated Cardiomyopathy

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刘 栋,赵映敏:靖江市人民医院儿科

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


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.

刘栋, 赵映敏. 儿童Prader-Willi综合征合并扩张性心肌病一例[J]. 亚洲儿科病例研究, 2013, 1(4): 57-59.


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