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伴有单侧小脑发育不全的默比厄斯综合征。

Moebius' syndrome with unilateral cerebellar hypoplasia.

作者信息

Harbord M G, Finn J P, Hall-Craggs M A, Brett E M, Baraitser M

机构信息

Hospitals for Sick Children, London.

出版信息

J Med Genet. 1989 Sep;26(9):579-82. doi: 10.1136/jmg.26.9.579.

DOI:10.1136/jmg.26.9.579
PMID:2810343
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015698/
Abstract

A case is reported of a child with Moebius' syndrome who also has unilateral cerebellar hypoplasia. We suggest that this combination of abnormalities could result from a vascular disruption occurring in the basilar artery early in its development.

摘要

报告了一例患有莫比乌斯综合征且伴有单侧小脑发育不全的儿童病例。我们认为，这种异常组合可能是由于基底动脉在其发育早期发生血管中断所致。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1f7/1015698/eb37df81e9a8/jmedgene00059-0037-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1f7/1015698/863b882507db/jmedgene00059-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1f7/1015698/071af91285f6/jmedgene00059-0036-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1f7/1015698/eb37df81e9a8/jmedgene00059-0037-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1f7/1015698/863b882507db/jmedgene00059-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1f7/1015698/071af91285f6/jmedgene00059-0036-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1f7/1015698/eb37df81e9a8/jmedgene00059-0037-a.jpg

相似文献

1
Moebius' syndrome with unilateral cerebellar hypoplasia.伴有单侧小脑发育不全的默比厄斯综合征。
J Med Genet. 1989 Sep;26(9):579-82. doi: 10.1136/jmg.26.9.579.
2
[Moebius' syndrome and Poland's anomaly (author's transl)].[梅比厄斯综合征与波兰氏异常（作者译）]
Z Orthop Ihre Grenzgeb. 1976 Apr;114(2):211-6.
3
Childhood psychosis in a case of Moebius syndrome.一例先天性面瘫综合征患儿的儿童期精神病
Neuropediatrics. 1984 Aug;15(3):147-9. doi: 10.1055/s-2008-1052359.
4
[Unilateral cerebellar hypoplasia: an alteration of vascular origin?].[单侧小脑发育不全：血管源性改变？]
Rev Neurol. 2003;36(9):841-5.
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8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome?与小脑蚓部下发育不全和手指异常相关的8q13.1-q13.2缺失：一种新综合征？
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A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta.一名患有成骨不全症的中国婴儿出现小脑发育不全的病例。
Hong Kong Med J. 2004 Jun;10(3):211-3.
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[Moebius' syndrome and border-line states].[梅比厄斯综合征与边缘状态]
Rev Otoneuroophtalmol. 1969 Dec;41(8):451-7.
8
Kinesiographic and electromyographic analysis of the masticatory muscles in Moebius' syndrome.梅比厄斯综合征咀嚼肌的运动学和肌电图分析
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The Moebius sequence--report of a case and a short annotation.默比厄斯序列——一例报告及简短注释
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[Moebius' syndrome. 3 cases].[梅比厄斯综合征。3例]
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Am J Med Genet A. 2018 Jan;176(1):48-55. doi: 10.1002/ajmg.a.38523. Epub 2017 Nov 24.
2
Maternal homocystinuria and Moebius syndrome? Vascular aetiology.母亲同型胱氨酸尿症与莫比乌斯综合征？血管病因。
BMJ Case Rep. 2011 Feb 14;2011:bcr0920103331. doi: 10.1136/bcr.09.2010.3331.
3
Unilateral cerebellar hypoplasia with different clinical features.单侧小脑发育不良伴不同临床特征。

本文引用的文献

1
OBSERVATIONS ON THE PATHOLOGY OF THE MOEBIUS SYNDROME.关于莫比乌斯综合征病理学的观察
J Neurol Neurosurg Psychiatry. 1965 Aug;28(4):362-74. doi: 10.1136/jnnp.28.4.362.
2
Facial weakness and oligosyndactyly: ? independent variable features of familial type of the Möbius syndrome.面部肌无力和少指（趾）畸形：莫比乌斯综合征家族型的独立可变特征？
Clin Genet. 1983 Nov;24(5):350-4.
3
The spectrum of congenital facial diplegia (Moebius syndrome).
Pediatr Neurol. 1985 May-Jun;1(3):180-4. doi: 10.1016/0887-8994(85)90061-x.
Cerebellum. 2011 Mar;10(1):49-60. doi: 10.1007/s12311-010-0225-2.
4
Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.锁骨下动脉供血中断序列：关于波兰综合征、克利佩尔-费尔综合征和莫比乌斯畸形血管病因的假说
Am J Med Genet. 1986 Apr;23(4):903-18. doi: 10.1002/ajmg.1320230405.
5
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation.
Arch Neurol. 1977 Jul;34(7):437-42. doi: 10.1001/archneur.1977.00500190071011.
6
Möbius syndrome due to brain stem tegmental necrosis.脑干被盖部坏死所致的莫比乌斯综合征
Arch Neurol. 1977 Feb;34(2):124-6. doi: 10.1001/archneur.1977.00500140078018.
7
Genetics of Möbius syndrome.默比厄斯综合征的遗传学
J Med Genet. 1977 Dec;14(6):415-7. doi: 10.1136/jmg.14.6.415.
8
Möbius syndrome. Neuropathologic observations.默比厄斯综合征。神经病理学观察。
Acta Neuropathol. 1979 Oct;48(1):11-7. doi: 10.1007/BF00691785.