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南斯-霍兰综合征的口腔表现：1例罕见病例报告

Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case.

作者信息

De Souza Neil, Chalakkal Paul, Martires Sergio, Soares Renita

机构信息

Department of Pedodontics and Preventive Dentistry, Goa Dental College and Hospital, Bambolim, Goa, India.

Department of Orthodontics and Dentofacial Orthopaedics, Goa Dental College and Hospital, Bambolim, Goa, India.

出版信息

Contemp Clin Dent. 2019 Jan-Mar;10(1):174-177. doi: 10.4103/ccd.ccd_490_18.

DOI:10.4103/ccd.ccd_490_18
PMID:32015664
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6975004/
Abstract

Nance-Horan syndrome (NHS) or X-linked cataract dental syndrome is an extremely rare condition affecting multiple systems. It is characterized by ophthalmological, dental, and facial anomalies. Individuals display facial dysmorphism, mandibular prognathism, congenital cataract, and strabismus. Common dental findings include notching of incisors, supernumerary teeth, and mulberry molars. This article aims to provide an update on NHS while reporting previously unreported findings such as talon's cusp and taurodontism.

摘要

南斯-霍兰综合征（NHS）或X连锁白内障牙齿综合征是一种极其罕见的影响多个系统的疾病。它的特征是眼科、牙科和面部异常。患者表现出面部畸形、下颌前突、先天性白内障和斜视。常见的牙科表现包括切牙切迹、多生牙和桑葚状磨牙。本文旨在提供关于NHS的最新情况，同时报告以前未报告的发现，如畸形舌侧尖和牛牙症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f00/6975004/54907843fe55/CCD-10-174-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f00/6975004/c40f0168edb3/CCD-10-174-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f00/6975004/b2bad35f87c9/CCD-10-174-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f00/6975004/ebba1690b5e9/CCD-10-174-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f00/6975004/54907843fe55/CCD-10-174-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f00/6975004/c40f0168edb3/CCD-10-174-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f00/6975004/b2bad35f87c9/CCD-10-174-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f00/6975004/ebba1690b5e9/CCD-10-174-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f00/6975004/54907843fe55/CCD-10-174-g004.jpg

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Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case.南斯-霍兰综合征的口腔表现：1例罕见病例报告
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[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations].[NHS基因突变导致的三例南斯-霍兰综合征家系的临床与遗传学特征]
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Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.全外显子组测序在与南斯-霍兰综合征相关的NHS基因中发现了一种新的截断突变。
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Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.女性因X;1平衡易位破坏NHS基因所致的南斯-霍兰综合征：家族病例报告及文献复习
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Great clinical variability of Nance Horan syndrome due to deleterious mutations in two unrelated Spanish families.两个不相关的西班牙家庭中因有害突变导致的南斯-霍兰综合征存在巨大临床变异性。
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Cureus. 2023 Apr 24;15(4):e38066. doi: 10.7759/cureus.38066. eCollection 2023 Apr.
2
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.纳尔逊-霍兰综合征：三新家族的牙齿、临床和分子特征的描述。
BMC Oral Health. 2023 May 23;23(1):314. doi: 10.1186/s12903-023-03029-4.
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本文引用的文献

1
Nance-Horan Syndrome: A Rare Case Report.南斯-霍兰综合征：一例罕见病例报告。
Contemp Clin Dent. 2017 Jul-Sep;8(3):469-472. doi: 10.4103/ccd.ccd_232_17.
2
A Turkish family with Nance-Horan Syndrome due to a novel mutation.一个土耳其家系患 Nance-Horan 综合征，致病原因为一种新的突变。
Gene. 2013 Aug 1;525(1):141-5. doi: 10.1016/j.gene.2013.03.094. Epub 2013 Apr 6.
3
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.鉴定一个台湾家系中 Xp22.13 微缺失与 Nance-Horan 综合征的关系。
牙齿数目异常：从基础到临床。
Int J Oral Sci. 2023 Jan 6;15(1):5. doi: 10.1038/s41368-022-00208-x.
4
A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family.在中国一个家族中通过下一代测序鉴定出一种新型的南斯-霍兰综合征突变。
Int J Ophthalmol. 2022 Jun 18;15(6):1015-1019. doi: 10.18240/ijo.2022.06.22. eCollection 2022.
J Hum Genet. 2011 Jan;56(1):8-11. doi: 10.1038/jhg.2010.121. Epub 2010 Sep 30.
4
A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses.南斯-霍兰综合征与自发性牙脓肿之间一种此前未被报道的关联。
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005 Feb;99(2):207-11. doi: 10.1016/j.tripleo.2004.07.004.
5
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.一种新基因NHS的突变会导致南斯-霍兰综合征的多种效应，包括严重先天性白内障、牙齿异常和智力迟钝。
Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16.
6
[Cataracts-oto-dental defects (Nance-Horan syndrome)].[白内障-耳-牙缺陷（南斯-霍兰综合征）]
Ryoikibetsu Shokogun Shirizu. 2001(33):344-5.
7
The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.南斯-霍兰综合征：一种罕见的X连锁眼牙性状，在杂合子女性中有所表现。
Clin Genet. 1984 Jul;26(1):30-5. doi: 10.1111/j.1399-0004.1984.tb00783.x.
8
Congenital X-linked cataract, dental anomalies and brachymetacarpalia.先天性X连锁白内障、牙齿异常和掌骨短小
Birth Defects Orig Artic Ser. 1974;10(4):285-91.
9
The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report.伴有牙齿异常、先天性白内障、小眼症及耳廓前倾的南斯-霍兰综合征：病例报告
Pediatr Dent. 1985 Dec;7(4):307-11.
10
Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.将伴有面部、牙齿和骨骼特征的X连锁白内障和小角膜基因定位到Xp22：对南斯-霍兰综合征的评估
Trans Am Ophthalmol Soc. 1989;87:658-728.