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赫林-韦纳-温德利希综合征与普拉德-威利综合征:仅是巧合?

Herlyn-Werner-Wunderlich and Prader-Willi syndromes: more than a coincidence?

作者信息

Fraga Beatriz, Gomes Catarina, Gouveia Raquel, Oliveira Graça

机构信息

Department of Pediatrics, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal.

Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.

出版信息

BMJ Case Rep. 2015 Oct 21;2015:bcr2015212597. doi: 10.1136/bcr-2015-212597.

Abstract

A neonate with a prenatal diagnosis of left renal agenesis was born at 33 weeks gestation. A postnatal abdominal ultrasound confirmed the absence of the left kidney and revealed two non-divergent hemiuteri, consistent with the diagnosis of Herlyn-Werner-Wunderlich syndrome. During admission, significant axial hypotonia was noted, warranting additional investigations. Brain ultrasounds and MRI were normal, as were a preliminary metabolic study and comparative genomic hybridisation array. DNA methylation testing confirmed the diagnosis of Prader-Willi syndrome. The baby was discharged after 70 days, breast feeding and with modest hypotonia improvement.

摘要

一名在孕33周时产前诊断为左肾缺如的新生儿出生。产后腹部超声证实左肾缺如,并显示两个未分开的半子宫,符合赫林-韦纳-温德利希综合征的诊断。住院期间,发现明显的轴性肌张力减退,需要进一步检查。脑部超声和磁共振成像正常,初步代谢研究和比较基因组杂交阵列也正常。DNA甲基化检测确诊为普拉德-威利综合征。婴儿在70天后出院,进行母乳喂养,轴性肌张力减退稍有改善。

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