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波兰-莫比乌斯综合征合并右位心。

Poland-Möbius syndrome associated with dextrocardia.

作者信息

Bosch-Banyeras J M, Zuasnabar A, Puig A, Català M, Cuatrecasas J M

出版信息

J Med Genet. 1984 Feb;21(1):70-1. doi: 10.1136/jmg.21.1.70.

DOI:10.1136/jmg.21.1.70
PMID:6319703
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049214/
Abstract

A newborn male with Möbius syndrome, Poland anomaly, and dextrocardia is described. This is the second case reported of Poland-Möbius syndrome associated with dextrocardia. The patient presented with strabismus, facial diplegia, difficulty in swallowing, hypoplasia of the left pectoralis major muscle, partial absence of the upper costal cartilages, absence of the left areola, hypoplasia of the left forearm and hand, and dextrocardia without murmurs.

摘要

本文描述了一名患有莫比乌斯综合征、波兰综合征和右位心的新生儿男性。这是第二例报道的与右位心相关的波兰-莫比乌斯综合征病例。该患者表现为斜视、面瘫、吞咽困难、左胸大肌发育不全、上肋软骨部分缺如、左乳晕缺如、左前臂和手部发育不全以及无杂音的右位心。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3219/1049214/4d58c459b700/jmedgene00099-0076-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3219/1049214/263f0ffaaf89/jmedgene00099-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3219/1049214/a01ca86c3090/jmedgene00099-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3219/1049214/4d58c459b700/jmedgene00099-0076-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3219/1049214/263f0ffaaf89/jmedgene00099-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3219/1049214/a01ca86c3090/jmedgene00099-0076-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3219/1049214/4d58c459b700/jmedgene00099-0076-c.jpg

相似文献

1
Poland-Möbius syndrome associated with dextrocardia.波兰-莫比乌斯综合征合并右位心。
J Med Genet. 1984 Feb;21(1):70-1. doi: 10.1136/jmg.21.1.70.
2
Möbius syndrome with Poland's anomaly.伴有波兰综合征的莫比乌斯综合征
J Med Genet. 1973 Jun;10(2):192-6. doi: 10.1136/jmg.10.2.192.
3
[Poland-Möbius syndrome. Apropos of 2 cases].
Arch Fr Pediatr. 1984 May;41(5):351-2.
4
[Poland's sequence and dextrocardia].[波兰序列征与右位心]
An Pediatr (Barc). 2004 Oct;61(4):350-1. doi: 10.1016/s1695-4033(04)78405-2.
5
Letter: Dextrocardia associated with Poland's syndrome.信函:右位心与波兰综合征相关。
J Pediatr. 1975 Feb;86(2):312. doi: 10.1016/s0022-3476(75)80499-9.
6
[Congenital aplasia of the pectoralis major muscle and ipsilateral anomalies of the upper limb: Poland's anomaly].
Rev Chil Pediatr. 1979 Sep-Oct;50(5):55-8.
7
[Hereditary Poland syndrome with megacalycosis of the right kidney].[伴有右肾巨肾盏的遗传性波兰综合征]
Schweiz Med Wochenschr. 1988 Jun 11;118(23):898-903.
8
Poland syndrome with dextrocardia: case report.伴有右位心的波兰综合征:病例报告。
East Afr Med J. 2010 Nov;87(11):469-72.
9
[Poland's syndrome: presentation of two cases diagnosed during the neonatal period (author's transl)].
Pediatr Med Chir. 1981 Nov-Dec;3(6):567-73.
10
Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis.波兰氏综合征患者的右位心:表型特征为发病机制提供了深入了解。
J Thorac Cardiovasc Surg. 2010 May;139(5):1177-82. doi: 10.1016/j.jtcvs.2009.08.024. Epub 2009 Nov 11.

引用本文的文献

1
Moebius Syndrome: An Updated Review of Literature.梅比厄斯综合征:文献综述更新
Child Neurol Open. 2023 Oct 18;10:2329048X231205405. doi: 10.1177/2329048X231205405. eCollection 2023 Jan-Dec.
2
Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.波兰-莫比乌斯综合征:一例涉及 PLXND1 基因突变的新病例报告及文献复习。
BMC Pediatr. 2022 Dec 30;22(1):745. doi: 10.1186/s12887-022-03803-3.
3
Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice.

本文引用的文献

1
The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence.波兰综合征——临床与系谱数据、皮纹分析及发病率
Hum Hered. 1973;23(2):97-104. doi: 10.1159/000152560.
2
Möbius syndrome with Poland's anomaly.伴有波兰综合征的莫比乌斯综合征
J Med Genet. 1973 Jun;10(2):192-6. doi: 10.1136/jmg.10.2.192.
3
Poland's syndrome associated with leukemia.波兰综合征与白血病相关。
与先天性心脏缺陷和眼科变化相关的遗传综合征——临床实践中的诊断系统化
Arq Bras Cardiol. 2018 Jan;110(1):84-90. doi: 10.5935/abc.20180013.
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Moebius syndrome with total anomalous pulmonary venous connection.伴有完全性肺静脉异位连接的莫比乌斯综合征
Indian J Pediatr. 2006 May;73(5):427-9. doi: 10.1007/BF02758568.
5
Mobius syndrome associated with ventricular septal defect.与室间隔缺损相关的莫比乌斯综合征。
Indian J Pediatr. 2001 May;68(5):455-6. doi: 10.1007/BF02723027.
J Pediatr. 1973 May;82(5):889. doi: 10.1016/s0022-3476(73)80093-9.
4
Poland's syndrome. Report of seven cases and review of the literature.波兰综合征。7例报告及文献综述。
Clin Pediatr (Phila). 1972 Feb;11(2):98-102. doi: 10.1177/000992287201100217.
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[Poland's syndrome. Clinical and genetic studies; physiopathologic considerations].[波兰综合征。临床与遗传学研究;病理生理学考量]
Nouv Presse Med. 1976 Jan 24;5(4):185-90.
6
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome.人类畸形综合征研究XXXXI B:汉哈特综合征和默比乌斯综合征的疾病分类学研究
Eur J Pediatr. 1976 Apr 6;122(1):19-55. doi: 10.1007/BF00445030.
7
Poland syndrome in British Columbia: incidence and reproductive experience of affected persons.不列颠哥伦比亚省的波兰综合征:患者的发病率及生育经历
Am J Med Genet. 1977;1(1):65-74. doi: 10.1002/ajmg.1320010108.
8
Poland syndrome: a new presentation.波兰综合征:一种新的表现形式。
J Pediatr. 1977 May;90(5):843-4. doi: 10.1016/s0022-3476(77)81271-7.
9
Letter: Dextrocardia associated with Poland's syndrome.信函:右位心与波兰综合征相关。
J Pediatr. 1975 Feb;86(2):312. doi: 10.1016/s0022-3476(75)80499-9.