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努南综合征合并原发性肺淋巴管扩张症

Noonan Syndrome Complicated by Primary Pulmonary Lymphangiectasia.

作者信息

Ford Jaclyn Jo, Trotter Carol W

出版信息

Neonatal Netw. 2015;34(2):117-25. doi: 10.1891/0730-0832.34.2.117.

Abstract

Noonan syndrome is a genetic disorder that has several features common to other conditions, making diagnosis a challenge. This column summarizes the case of a neonate with an atypical presentation of Noonan syndrome involving a fatal type of lymphangiectasia resulting in persistent pleural effusions. Radiographic features of this condition are presented along with the complexities of diagnosis and treatment.

摘要

努南综合征是一种遗传性疾病,具有一些与其他病症共有的特征,这使得诊断颇具挑战性。本专栏总结了一例患有非典型努南综合征的新生儿病例,该病例涉及一种致命类型的淋巴管扩张症,导致持续性胸腔积液。本文介绍了该病症的影像学特征以及诊断和治疗的复杂性。

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