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Hemifacial microsomia--oculo-auriculo-vertebral dysplasia. A patient with overlapping features.

作者信息

Pashayan H, Pinsky L, Fraser F C

出版信息

J Med Genet. 1970 Jun;7(2):185-8. doi: 10.1136/jmg.7.2.185.

DOI:10.1136/jmg.7.2.185
PMID:4997787
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468807/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77f8/1468807/11dcbb36156a/jmedgene00369-0085-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77f8/1468807/f36952ad5fd6/jmedgene00369-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77f8/1468807/4bb48933085f/jmedgene00369-0084-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77f8/1468807/393fdebff524/jmedgene00369-0084-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77f8/1468807/11dcbb36156a/jmedgene00369-0085-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77f8/1468807/f36952ad5fd6/jmedgene00369-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77f8/1468807/4bb48933085f/jmedgene00369-0084-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77f8/1468807/393fdebff524/jmedgene00369-0084-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77f8/1468807/11dcbb36156a/jmedgene00369-0085-a.jpg

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Hemifacial microsomia--oculo-auriculo-vertebral dysplasia. A patient with overlapping features.半侧颜面短小畸形——眼-耳-脊椎发育不良。一名具有重叠特征的患者。
J Med Genet. 1970 Jun;7(2):185-8. doi: 10.1136/jmg.7.2.185.
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Imaging Sci Dent. 2016 Dec;46(4):279-284. doi: 10.5624/isd.2016.46.4.279. Epub 2016 Dec 20.
2
Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.巴西眼-耳-脊椎谱系表型患者样本的临床和细胞遗传学特征：一项横断面研究。
Sao Paulo Med J. 2015 May-Jun;133(3):191-8. doi: 10.1590/1516-3180.2013.7762204. Epub 2014 Oct 17.
3
Sleep outcomes in children with hemifacial microsomia and controls: a follow-up study.

本文引用的文献

1
OCULOAURICULOVERTEBRAL DYSPLASIA.眼耳脊椎发育不良
J Pediatr. 1963 Nov;63:991-9. doi: 10.1016/s0022-3476(63)80233-4.
2
[Mandibulo-facial abnormalities and their differentiation from an oculo-vertebral syndrome].[下颌面部异常及其与眼-脊椎综合征的鉴别]
J Genet Hum. 1958 Oct;7(3):143-73.
3
[Mandibulofacial dysostosis combined with special ocular malformations].下颌面骨发育不全合并特殊眼部畸形
半侧颜面短小畸形患儿与对照组的睡眠结局：一项随访研究
Pediatrics. 2009 Aug;124(2):e313-21. doi: 10.1542/peds.2008-3488. Epub 2009 Jul 27.
4
Goldenhar syndrome and hemifacial microsomia: observations on three patients.戈尔登哈综合征与半侧颜面短小畸形：三例患者观察报告
Eur J Pediatr. 1980 May;133(3):287-92. doi: 10.1007/BF00496092.
J Genet Hum. 1955 Dec;4(4):234-55.
4
[Oculo-auricular malformations (epibulbar lipodermoid tumor, pre-auricular appendix, coloboma of the upper eyelid) and their relation to mandibulo-facial dystostosis].[眼耳畸形（眼球表面皮样瘤、耳前附件、上睑缺损）及其与下颌面骨发育不全的关系]
Ann Ocul (Paris). 1953 Feb;186(2):155-69.
5
Goldenhar's syndrome.戈尔登哈综合征
Br Med J. 1968 Feb 24;1(5590):489-90. doi: 10.1136/bmj.1.5590.489.
6
The oculoauriculovertebral dysplasia syndrome of Goldenhar.戈尔登哈综合征的眼耳脊椎发育异常综合征
Am J Ophthalmol. 1966 Oct;62(4):678-82. doi: 10.1016/0002-9394(66)92193-3.