新生儿枫糖尿症合并生殖器畸形 1 例

doi:10.3969/j.issn.2095-5340.2020.04.014

发育医学电子杂志

2020, Vol. 8

Issue (4): 358-358，377 DOI: 10.3969/j.issn.2095-5340.2020.04.014

围产医学病例报告｜新生儿

新生儿枫糖尿症合并生殖器畸形 1 例

朱恋　马娟　朱丹　刘慧

陆军军医大学大坪医院　儿科，重庆　400042

Maple syrup urine disease complicated with genital malformation: a case report#br#

Zhu Lian, Ma Juan, Zhu Dan, et al

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患儿男，因生后 7 d 呼吸急促伴进奶差 6 d，于2016 年 12 月 30 日收入陆军军医大学大坪医院儿科。患儿生后 2 d 出现呼吸急促，面色发绀，进奶少，且吸吮力欠佳，伴吐、呛。入院查体：反应及哭声弱，生长发育欠佳。双肺呼吸较弱，可见轻度三凹征，双肺可闻及粗湿啰音。阴茎短小，中度尿道下裂，尿道开口于阴茎体前段，轻度下弯畸形，双侧阴囊粘连。入院初步诊断：新生儿肺炎、新生儿败血症、尿道下裂、隐睾、新生儿缺血缺氧性脑损伤。

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新生儿枫糖尿症尿道下裂隐睾

收稿日期: 2019-02-25 发布日期: 2020-11-05

基金资助:

重庆市科技创新与应用规范一般项目（cstc2018jscx-msybx0054）

通讯作者: 马娟 E-mail: 285405195@qq.com

引用本文:

朱恋　马娟　朱丹　刘慧.

新生儿枫糖尿症合并生殖器畸形 1 例

[J]. 发育医学电子杂志, 2020, 8(4): 358-358，377.
Zhu Lian, Ma Juan, Zhu Dan, et al.

Maple syrup urine disease complicated with genital malformation: a case report#br#

. Journal of Developmental Medicine(Electronic Version), 2020, 8(4): 358-358，377.

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http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2020.04.014 或 http://www.fyyxzz.com/CN/Y2020/V8/I4/358

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[2]	安妮妮　吴谋东　占雄等. 耦合法尿道成形术在中重度阴茎下弯的阴茎体型尿道下裂的应用[J]. 发育医学电子杂志, 2016, 4(2): 103-106.
[3]	安妮妮. 常见尿道下裂术式的选择[J]. 发育医学电子杂志, 2016, 4(2): 75-78.
[4]	刘德鸿　沈丽萍. 重视影响尿道下裂长期疗效的几个重要问题[J]. 发育医学电子杂志, 2016, 4(2): 72-75.
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