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麦库西克-考夫曼综合征:新生儿期腹胀的诊断挑战。

McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period.

作者信息

Schaap C, de Die-Smulders C E, Kuijten R H, Fryns J P

机构信息

Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.

出版信息

Eur J Pediatr. 1992 Aug;151(8):583-5. doi: 10.1007/BF01957727.

DOI:10.1007/BF01957727
PMID:1505577
Abstract

We report a newborn girl with McKusick-Kaufman syndrome who presented at birth with severe life-threatening abdominal distension due to hydrometrocolpos. In children with polydactyly and cystic masses in the lower abdomen should hydrometrocolpos be especially considered. Ultrasonography is of great value in the correct assignment of lower abdominal tumours, but should be completed by vagino(cysto)scopy when hydrometrocolpos is suspected.

摘要

我们报告了一名患有麦库西克-考夫曼综合征的新生儿女孩,她出生时因阴道积血积脓出现严重的、危及生命的腹胀。对于患有多指畸形且下腹部有囊性肿块的儿童,应特别考虑阴道积血积脓。超声检查在正确诊断下腹部肿瘤方面具有重要价值,但当怀疑有阴道积血积脓时,应通过阴道(膀胱)镜检查来完善诊断。

相似文献

1
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period.麦库西克-考夫曼综合征:新生儿期腹胀的诊断挑战。
Eur J Pediatr. 1992 Aug;151(8):583-5. doi: 10.1007/BF01957727.
2
Abdominal distension in Kaufman-McKusick syndrome.
Am J Med Genet. 1986 Oct;25(2):205-10. doi: 10.1002/ajmg.1320250202.
3
The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome--a case report.
Changgeng Yi Xue Za Zhi. 1994 Jun;17(2):173-7.
4
[McKusick-Kaufman syndrome as a cause of acute abdomen in the neonatal period].
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The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease.
J Pediatr. 1979 May;94(5):776-8. doi: 10.1016/s0022-3476(79)80155-9.
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[Kaufmann syndrome or VACTERL association? Discussion of a differential diagnosis].
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The Mckusick-Kaufman syndrome: report of a case with some associations.
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Neonatal hydrometrocolpos associated with McKusick Kaufman syndrome.与麦库西克-考夫曼综合征相关的新生儿阴道积血积脓
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Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome.胎儿积水性尿道阴道积水伴前轴镜像多指畸形:一种新的 McKusick-Kaufman 综合征变异型。
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Hydrometrocolpos etiology and management: past beckons the present.处女膜闭锁的病因及治疗:往昔呼唤今朝。 (注:Hydrometrocolpos常见释义为处女膜闭锁,原文中该词使用可能有误,更准确的术语可能是Hymenolepsis,具体需结合专业语境判断,但根据指令要求按给定英文翻译为“处女膜闭锁” )
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Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

本文引用的文献

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