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与歌舞伎综合征相关的斜视和立体视锐度差。

Strabismus and poor stereoacuity associated with Kabuki syndrome.

作者信息

Kim Nam Gil, Kim Hyon J, Hwang Jeong-Min

机构信息

Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.

出版信息

Korean J Ophthalmol. 2011 Apr;25(2):136-8. doi: 10.3341/kjo.2011.25.2.136. Epub 2011 Mar 11.

DOI:10.3341/kjo.2011.25.2.136
PMID:21461228
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3060392/
Abstract

Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the need for patients with a diagnosis of Kabuki syndrome to have an ophthalmologic evaluation. Strabismus associated with Kabuki syndrome may have a small angle that can be easily overlooked.

摘要

歌舞伎综合征的特征为睑裂长、耳朵大、鼻尖凹陷,以及伴有出生后侏儒症和智力迟钝的骨骼异常。此前很少有关于这些患者斜视或立体视的详细描述。我们报告了一名患有歌舞伎综合征的患者,该患者表现为小角度斜视和立体视差。这个病例表明,诊断为歌舞伎综合征的患者需要进行眼科评估。与歌舞伎综合征相关的斜视可能角度较小,容易被忽视。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ddb6/3060392/e041fea7e044/kjo-25-136-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ddb6/3060392/e041fea7e044/kjo-25-136-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ddb6/3060392/e041fea7e044/kjo-25-136-g001.jpg

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本文引用的文献

1
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.
Eur J Hum Genet. 2005 Jun;13(6):716-20. doi: 10.1038/sj.ejhg.5201377.
2
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.歌舞伎综合征的非典型表现:20例系列报道中的8例患者及文献复习
Am J Med Genet A. 2004 Aug 15;129A(1):64-8. doi: 10.1002/ajmg.a.30144.
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Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.
Am J Med Genet A. 2004 Jun 1;127A(2):118-27. doi: 10.1002/ajmg.a.20674.
4
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.歌舞伎综合征中的脉络膜缺损及其他眼科异常:与CHARGE综合征的鉴别
Am J Med Genet A. 2003 Dec 15;123A(3):249-52. doi: 10.1002/ajmg.a.20277.
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Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.歌舞伎综合征(丹川-黑木综合征):62例患者的研究
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