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两名男性同胞患马耶夫斯基型短肋多指综合征。

Short rib-polydactyly syndrome, Majewski type, in two male siblings.

作者信息

Motegi T, Kusunoki M, Nishi T, Hamada T, Sato N, Imamura T, Mohri N

出版信息

Hum Genet. 1979 Jul 18;49(3):269-75. doi: 10.1007/BF00569346.

DOI:10.1007/BF00569346
PMID:478536
Abstract

Two male siblings with a short rib-polydactyly syndrome, Majewski type (Majewski syndrome), are reported. To our knowledge, the present report is the first one of siblings each confirmed to be affected by Majewski syndrome, and it may therefore contribute to establishing the mode of inheritance.

摘要

本文报告了两名患有短肋多指综合征(马耶夫斯基型,即马耶夫斯基综合征)的男性同胞。据我们所知,本报告是首例证实同胞均患马耶夫斯基综合征的病例,因此可能有助于确定其遗传方式。

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1
Short rib-polydactyly syndrome, Majewski type, in two male siblings.两名男性同胞患马耶夫斯基型短肋多指综合征。
Hum Genet. 1979 Jul 18;49(3):269-75. doi: 10.1007/BF00569346.
2
Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.
Radiology. 1982 Aug;144(3):513-7. doi: 10.1148/radiology.144.3.7100463.
3
Short rib-polydactyly syndrome (Majewski type).
Indian Pediatr. 1983 Nov;20(11):870-3.
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Parental consanguinity and the Majewski syndrome.近亲结婚与马耶夫斯基综合征
J Med Genet. 1982 Apr;19(2):141-3. doi: 10.1136/jmg.19.2.141.
5
Brief clinical report: short rib-polydactyly syndrome, Majewski type.简要临床报告:短肋多指综合征,马耶夫斯基型。
Am J Med Genet. 1983 Mar;14(3):445-52. doi: 10.1002/ajmg.1320140307.
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Short rib-polydactyly syndrome, Majewski type.短肋多指综合征,马耶夫斯基型。
Am J Med Genet. 1980;7(2):215-22. doi: 10.1002/ajmg.1320070214.
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Short-rib-polydactyly syndrome (Saldino-Noonan type).
Turk J Pediatr. 1982 Jul-Sep;24(3):175-82.
8
Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes.胎儿镜检查在马耶夫斯基型和萨尔迪诺-努南型短肋多指综合征产前诊断中的应用
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Beemer-Langer type short rib-polydactyly syndrome: report of two cases.比默-兰格型短肋多指综合征:两例报告。
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Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.
Z Kinderheilkd. 1974 Jan 17;116(2):73-94. doi: 10.1007/BF00491508.

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Difficulties in classification of the short rib-polydactyly syndromes.短肋多指综合征的分类难点。

本文引用的文献

1
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.
Z Kinderheilkd. 1974 Jan 17;116(2):73-94. doi: 10.1007/BF00491508.
2
[Polysyndactyly, short limbs, and genital malformations--a new syndrome?].
Z Kinderheilkd. 1971;111(2):118-38.
Eur J Pediatr. 1980;133(1):57-61. doi: 10.1007/BF00444756.
4
Ocular pathology of the Majewski syndrome.马耶夫斯基综合征的眼部病理学
Br J Ophthalmol. 1982 Nov;66(11):736-41. doi: 10.1136/bjo.66.11.736.
5
Parental consanguinity and the Majewski syndrome.近亲结婚与马耶夫斯基综合征
J Med Genet. 1982 Apr;19(2):141-3. doi: 10.1136/jmg.19.2.141.
6
Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?长管状骨弯曲和轴前多指(趾)畸形是梅克尔综合征的体征吗?
Hum Genet. 1983;65(2):125-33. doi: 10.1007/BF00286648.
7
Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.短肋多指综合征:单一实体还是异质性实体?由4例新病例引发的重新评估
J Med Genet. 1985 Feb;22(1):46-53. doi: 10.1136/jmg.22.1.46.
8
Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.
Pediatr Radiol. 1987;17(6):474-80. doi: 10.1007/BF02388282.