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伴有波兰综合征的莫比乌斯综合征

Möbius syndrome with Poland's anomaly.

作者信息

Sugarman G I, Stark H H

出版信息

J Med Genet. 1973 Jun;10(2):192-6. doi: 10.1136/jmg.10.2.192.

DOI:10.1136/jmg.10.2.192
PMID:4351696
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013017/
Abstract

A five-year-old boy with Möbius syndrome, Poland's anomaly, and dextrocardia is described. These malformations have not been previously reported. The propositus had ipsilateral absence of the sternal portion of the pectoralis major muscle associated with acromicria, syndactyly, brachydactyly of the index, middle, ring, and fifth finger, as well as radiological evidence of hypoplasia of the index middle and ring fingers, associated with syndactylia and absent middle phalanges.

摘要

本文描述了一名患有莫比乌斯综合征、波兰氏异常和右位心的五岁男孩。这些畸形此前未见报道。该患者胸大肌胸骨部同侧缺失,伴有肢端过小、并指畸形、示指、中指、环指和小指短指畸形,以及示指、中指和环指发育不全的影像学证据,伴有并指畸形和中指指骨缺失。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/9a7cdf82a114/jmedgene00323-0096-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/b91d8aef2357/jmedgene00323-0093-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/dc35cce95f00/jmedgene00323-0093-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/6595b77997d3/jmedgene00323-0093-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/1a7fd40cbc8a/jmedgene00323-0093-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/fda808308ae5/jmedgene00323-0093-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/45e56e1eba31/jmedgene00323-0094-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/ca1c51bc9661/jmedgene00323-0094-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/05b6c17b2fcc/jmedgene00323-0096-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/9a7cdf82a114/jmedgene00323-0096-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/b91d8aef2357/jmedgene00323-0093-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/dc35cce95f00/jmedgene00323-0093-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/6595b77997d3/jmedgene00323-0093-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/1a7fd40cbc8a/jmedgene00323-0093-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/fda808308ae5/jmedgene00323-0093-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/45e56e1eba31/jmedgene00323-0094-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/ca1c51bc9661/jmedgene00323-0094-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/05b6c17b2fcc/jmedgene00323-0096-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd55/1013017/9a7cdf82a114/jmedgene00323-0096-b.jpg

相似文献

1
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.
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
[Unilateral Moebius syndrome associated with Poland's abnormality in a 25-year-old woman (author's transl)].
Ann Otolaryngol Chir Cervicofac. 1980 Mar;97(3):267-75.
4
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.
5
[Moebius' syndrome associated with malformations of the extremities. Apropos of 5 cases].[与肢体畸形相关的梅比厄斯综合征。附5例报告]
J Genet Hum. 1974 Dec;22(4):329-40.
6
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.
7
[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.
8
[3 cases of Möbius syndrome].[3例莫比乌斯综合征]
Bull Soc Ophtalmol Fr. 1971 Feb;71(2):199-203.
9
[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.
10
[Poland-Möbius syndrome. Apropos of 2 cases].
Arch Fr Pediatr. 1984 May;41(5):351-2.

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
Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report.

本文引用的文献

1
Nuclear agenesis: Möbius' syndrome: the congenital facial diplegia syndrome.核发育不全:莫比乌斯综合征:先天性面瘫综合征。
Arch Dis Child. 1955 Jun;30(151):237-43. doi: 10.1136/adc.30.151.237.
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Developmental chest wall defects.发育性胸壁缺损
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Möbius syndrome and facioscapulohumeral muscular dystrophy.莫比乌斯综合征和面肩肱型肌营养不良症。
伴有髂内动脉供血中断序列征的波兰综合征:一例报告
J Med Case Rep. 2018 Oct 26;12(1):312. doi: 10.1186/s13256-018-1823-8.
4
Mobius syndrome and poland syndrome presenting together in a single patient.莫比乌斯综合征和波兰综合征同时出现在一名患者身上。
Eplasty. 2015 Feb 19;15:ic12. eCollection 2015.
5
Neurofibroma and Pectoralis Muscle Hypoplasia: A Mild Degree of Poland's Syndrome.神经纤维瘤和胸肌发育不良:波兰综合征的轻度表现。
Breast Care (Basel). 2012 Dec;7(6):490-2. doi: 10.1159/000345466.
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Poland-Möbius syndrome.波兰-莫比乌斯综合征。
J Med Genet. 1981 Aug;18(4):317-20. doi: 10.1136/jmg.18.4.317.
7
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.
8
Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc).波兰综合征合并“牵牛花”综合征(视盘缺损)。
J Med Genet. 1986 Aug;23(4):364-6. doi: 10.1136/jmg.23.4.364.
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Moebius syndrome.梅比厄斯综合征
J Med Genet. 1990 Feb;27(2):122-6.
10
Poland's syndrome associated with growth hormone deficiency.波兰综合征伴生长激素缺乏症。
J Med Genet. 1990 Jan;27(1):53-5. doi: 10.1136/jmg.27.1.53.
Arch Neurol. 1971 Jan;24(1):31-9. doi: 10.1001/archneur.1971.00480310059005.
4
Moebius syndrome, ectrodactyly, hypoplasia of tongue and pectoral muscles.
Birth Defects Orig Artic Ser. 1971 Jun;7(7):283-4.
5
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.
6
[Surgical treatment of congenital chest wall defect associated with congenital deformity of the hand].[先天性胸壁缺损合并先天性手部畸形的外科治疗]
Kyobu Geka. 1967 Aug;20(8):559-62.