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家族性波兰异常。

Familial Poland anomaly.

作者信息

David T J

出版信息

J Med Genet. 1982 Aug;19(4):293-6. doi: 10.1136/jmg.19.4.293.

DOI:10.1136/jmg.19.4.293
PMID:6288948
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048897/
Abstract

The Poland anomaly is usually a non-genetic malformation syndrome. This paper reports two second cousins who both had a typical left sided Poland anomaly, and this constitutes the first recorded case of this condition affecting more than one member of a family. Despite this, for the purposes of genetic counselling, the Poland anomaly can be regarded as a sporadic condition with an extremely low recurrence risk.

摘要

波兰综合征通常是一种非遗传性畸形综合征。本文报告了两名表亲，他们均患有典型的左侧波兰综合征，这是有记录以来该病症影响一个家族中多名成员的首例病例。尽管如此，出于遗传咨询的目的，波兰综合征可被视为一种散发性病症，复发风险极低。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f1/1048897/87ebb33a4625/jmedgene00114-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f1/1048897/ea75e4a165d0/jmedgene00114-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f1/1048897/fd8aae6f7811/jmedgene00114-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f1/1048897/bf75d6829023/jmedgene00114-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f1/1048897/87ebb33a4625/jmedgene00114-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f1/1048897/ea75e4a165d0/jmedgene00114-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f1/1048897/fd8aae6f7811/jmedgene00114-0058-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f1/1048897/bf75d6829023/jmedgene00114-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f1/1048897/87ebb33a4625/jmedgene00114-0059-b.jpg

相似文献

1
Familial Poland anomaly.家族性波兰异常。
J Med Genet. 1982 Aug;19(4):293-6. doi: 10.1136/jmg.19.4.293.
2
Poland anomaly in mother and daughter.
Am J Med Genet. 1989 Aug;33(4):519-21. doi: 10.1002/ajmg.1320330423.
3
Presentation and Treatment of Poland Anomaly.波兰综合征的临床表现与治疗
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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.
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Dermatoglyphic diagnosis of the poland anomaly in the absence of syndactyly.无并指畸形情况下波兰综合征的皮纹诊断
Hum Hered. 1974;24(4):373-8. doi: 10.1159/000152673.
6
[Concordant myaplasia of the thoracic wall in monozygotic twins (Poland anomaly)].[单卵双胞胎胸壁一致性发育不全（波兰综合征）]
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[Clinical analysis of familial forms of myasthenia].[重症肌无力家族型的临床分析]
Zh Nevropatol Psikhiatr Im S S Korsakova. 1986;86(3):321-6.
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引用本文的文献

1
Right-sided Poland syndrome with no classical hand deformity: A case report.无典型手部畸形的右侧波兰综合征：一例报告。
Radiol Case Rep. 2024 Nov 4;20(1):515-520. doi: 10.1016/j.radcr.2024.10.023. eCollection 2025 Jan.
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
A narrative review of Poland's syndrome: theories of its genesis, evolution and its diagnosis and treatment.

本文引用的文献

1
The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.
Am J Med Genet. 1980;6(1):25-59. doi: 10.1002/ajmg.1320060105.
2
Minor manifestations in preaxial polydactyly type 1 and Poland complex.1型轴前多指畸形和波兰综合征的轻微表现。
Am J Med Genet. 1981;8(2):221-8. doi: 10.1002/ajmg.1320080213.
3
[Congenital dysplasia of the musculi pectorales associated with congenital hand and finger malformations of the ipsilateral upper limb].[先天性胸肌发育异常合并同侧上肢先天性手部及手指畸形]
波兰综合征的叙述性综述：其成因、演变、诊断及治疗的理论
Transl Pediatr. 2021 Apr;10(4):1008-1019. doi: 10.21037/tp-20-320.
4
A case report of Poland Syndrome with Absent Limb Anomalies.一例伴有肢体缺如畸形的波兰综合征病例报告。
J Orthop Case Rep. 2019;9(4):3-5. doi: 10.13107/jocr.2019.v09i04.1452.
5
Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report.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.
6
Presentation and Treatment of Poland Anomaly.波兰综合征的临床表现与治疗
Hand (N Y). 2016 Dec;11(4):389-395. doi: 10.1177/1558944716647355. Epub 2016 Oct 10.
7
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.
8
Muscle abnormalities of the chest in Poland's syndrome: variations and proposal for a classification.波兰综合征胸部肌肉异常：变异情况及分类建议
Surg Radiol Anat. 2012 Jan;34(1):57-63. doi: 10.1007/s00276-011-0851-5. Epub 2011 Jul 29.
9
Familial Poland anomaly.家族性波兰综合征。
J Med Genet. 1983 Apr;20(2):152-4. doi: 10.1136/jmg.20.2.152.
10
Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles.家族性胸大肌、前锯肌和背阔肌缺失。
J Med Genet. 1985 Oct;22(5):390-2. doi: 10.1136/jmg.22.5.390.
Acta Chir Orthop Traumatol Cech. 1966 Aug;33(4):320-7.
4
Letter: Absence of pectoralis major muscle in two sisters associated with leukemia in one of them.信件：两姐妹中一人患白血病，同时伴有一侧胸大肌缺失。
J Pediatr. 1974 Sep;85(3):436-7. doi: 10.1016/s0022-3476(74)80139-3.
5
Nature and etiology of the Poland anomaly.
N Engl J Med. 1972 Sep 7;287(10):487-9. doi: 10.1056/NEJM197209072871004.
6
[Clinical and genetic aspects of Poland's syndrome].[波兰综合征的临床与遗传学方面]
Dtsch Med Wochenschr. 1971 Jun 18;96(25):1076-8. doi: 10.1055/s-0028-1108386.
7
Vascular origin of Poland syndrome? by J.-P. Bouvet et al.波兰综合征的血管起源？作者：J.-P. 布韦等
Eur J Pediatr. 1979 Apr 3;130(4):299-301. doi: 10.1007/BF00441367.
8
Risk of recurrence in usually nongenetic malformation syndromes.通常非遗传性畸形综合征的复发风险。
Birth Defects Orig Artic Ser. 1979;15(5C):181-8.
9
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.
10
The familial occurrence of Poland syndrome.波兰综合征的家族性发病情况。
Birth Defects Orig Artic Ser. 1977;13(3A):117-21.