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The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.巨膀胱-小结肠-肠蠕动不良综合征：一种致命的常染色体隐性疾病。
J Med Genet. 1989 Jan;26(1):66-7. doi: 10.1136/jmg.26.1.66.
2
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.巨膀胱-小结肠-肠蠕动减弱综合征：常染色体隐性遗传的确证
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3
Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome.巨膀胱-小结肠-肠蠕动不良综合征中的宫内死亡
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Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.巨膀胱-小结肠-肠蠕动减少综合征（MMIHS），一种常染色体隐性疾病：临床报告及文献综述
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Megacystis-microcolon-intestinal hypoperistalsis syndrome in a male infant.一名男婴的巨膀胱-小结肠-肠蠕动不良综合征
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The antenatal sonographic features of megacystis-microcolon-intestinal hypoperistalsis syndrome.巨膀胱-小结肠-肠蠕动不良综合征的产前超声特征。
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The megacystis-microcolon-intestinal hypoperistalsis syndrome: report of a case and review of the literature.巨膀胱-小结肠-肠蠕动不良综合征：1例报告及文献复习
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Megacystis-microcolon-hypoperistalsis syndrome and anechoic areas in the fetal abdomen.巨膀胱-小结肠-蠕动功能不良综合征与胎儿腹部无回声区
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Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.家族性巨膀胱-小结肠-肠蠕动不良综合征：一项系统评价
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Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report.巨膀胱-小结肠-肠蠕动不良综合征：一例报告
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6
Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome.巨膀胱-小结肠-肠蠕动不良综合征的产前诊断
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7
Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome.心脏横纹肌瘤与巨膀胱-小结肠-肠蠕动不良综合征
J Med Genet. 1991 Apr;28(4):274-6. doi: 10.1136/jmg.28.4.274.

本文引用的文献

1
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn.
Br J Radiol. 1980 Mar;53(627):249-52. doi: 10.1259/0007-1285-53-627-249.
2
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy.
J Pediatr Surg. 1983 Feb;18(1):64-9. doi: 10.1016/s0022-3468(83)80275-9.
3
Megacystis, microcolon, intestinal hypoperistalsis syndrome: possible pathogenesis.巨膀胱、小结肠、肠道蠕动功能减退综合征：可能的发病机制
J Pediatr Surg. 1984 Apr;19(2):206-8. doi: 10.1016/s0022-3468(84)80454-6.
4
Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: common pathogenesis?
Pediatr Radiol. 1983;13(5):294-6. doi: 10.1007/BF00973353.
5
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.巨膀胱-小结肠-肠蠕动减弱综合征：常染色体隐性遗传的确证
J Med Genet. 1986 Aug;23(4):360-2. doi: 10.1136/jmg.23.4.360.
6
A 6p trisomy detected in a family with a "giant satellite".在一个有“巨大卫星”的家族中检测到6号染色体三体。
Humangenetik. 1975 Oct 20;30(1):63-7. doi: 10.1007/BF00273632.
7
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls.巨膀胱-小结肠-肠蠕动减少综合征：新生儿肠梗阻的一个新病因。5例新生儿女孩的放射学表现报告。
AJR Am J Roentgenol. 1976 May;126(5):957-64. doi: 10.2214/ajr.126.5.957.
8
Partial trisomy 6p.6号染色体短臂部分三体性
Hum Genet. 1979 Apr 17;48(1):13-6. doi: 10.1007/BF00273268.

巨膀胱-小结肠-肠蠕动不良综合征：一种致命的常染色体隐性疾病。

The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.

作者信息

Penman D G, Lilford R J

机构信息

Department of Obstetrics and Gynaecology, St James's University Hospital, Leeds.

出版信息

J Med Genet. 1989 Jan;26(1):66-7. doi: 10.1136/jmg.26.1.66.

DOI:10.1136/jmg.26.1.66
PMID:2918532
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015544/
Abstract

We report the cases of two sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases further support the view that this syndrome is inherited in an autosomal recessive fashion.

摘要

我们报告了两例患有巨膀胱-小结肠-肠蠕动不良综合征的同胞病例。父母是近亲。这些病例进一步支持了该综合征以常染色体隐性方式遗传的观点。