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米其林轮胎婴儿综合征:四代人在婴儿期和幼儿期出现的家族性束带综合征

Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations.

作者信息

Bass H N, Caldwell S, Brooks B S

机构信息

Department of Pediatrics, Kaiser Permanente Medical Center, Panorama City, CA 91402-5497.

出版信息

Am J Med Genet. 1993 Feb 1;45(3):370-2. doi: 10.1002/ajmg.1320450318.

DOI:10.1002/ajmg.1320450318
PMID:8434626
Abstract

We report on an infant with an unusual pattern of transitory familial constriction bands distributed symmetrically and circumferentially over the neck, forearms, and lower legs. Family history showed the occurrence of similar bands among individuals in 4 generations transmitted as an autosomal dominant trait. Neck and limb distribution in the other affected family members was also symmetrical and circumferential, with spontaneous resolution taking place during childhood. This case represents another example of the Michelin tire baby syndrome, also known as multiple benign circumferential skin creases of the limbs, and further demonstrates its autosomal dominant mode of inheritance.

摘要

我们报告了一名婴儿,其出现了一种不寻常的短暂性家族性束带模式,这些束带对称且环绕地分布在颈部、前臂和小腿。家族史显示,在4代人中,有个体出现了类似的束带,呈常染色体显性性状遗传。其他受影响家庭成员的颈部和肢体分布也是对称且环绕的,在儿童期可自发消退。该病例是米其林轮胎婴儿综合征(也称为肢体多发性良性环形皮肤皱襞)的又一实例,并进一步证明了其常染色体显性遗传模式。

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Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations.米其林轮胎婴儿综合征:四代人在婴儿期和幼儿期出现的家族性束带综合征
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The "Michelin tire baby syndrome": an autosomal dominant trait.“米其林轮胎婴儿综合征”:一种常染色体显性性状。
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The "Michelin tire baby" syndrome--an autosomal dominant trait.“米其林轮胎婴儿”综合征——一种常染色体显性性状。
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引用本文的文献

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Michelin Tire Baby Syndrome with Dermal Sclerosis: A Novel Association.伴有皮肤硬化的米其林轮胎婴儿综合征:一种新的关联。
Indian J Dermatol. 2020 Nov-Dec;65(6):538-540. doi: 10.4103/ijd.IJD_143_20.
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Michelin Tire Baby Syndrome: A Rare Case with Review of Literature.米其林轮胎婴儿综合征:1例罕见病例并文献复习
Cureus. 2019 Sep 10;11(9):e5619. doi: 10.7759/cureus.5619.
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Familial Michelin tire baby syndrome.家族性米其林轮胎婴儿综合征。
Indian J Dermatol. 2012 Jan;57(1):74-6. doi: 10.4103/0019-5154.92690.
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New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.与多种先天性异常相关的先天性环形皮肤褶皱新综合征。
Pediatr Dermatol. 2012 Jan-Feb;29(1):89-95. doi: 10.1111/j.1525-1470.2011.01403.x. Epub 2011 Oct 13.
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Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.SEPT9基因内的重复与北美遗传性神经性肌萎缩症家族中的奠基者效应相关。
Hum Mol Genet. 2009 Apr 1;18(7):1200-8. doi: 10.1093/hmg/ddp014. Epub 2009 Jan 12.
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The relationship between main elbow flexion skin crease and osseous anatomy of the elbow joint.主要肘部屈曲皮肤褶皱与肘关节骨解剖结构之间的关系。
Surg Radiol Anat. 2009 Jan;31(1):55-8. doi: 10.1007/s00276-008-0385-7. Epub 2008 Jul 23.