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眼-面-心-牙(OFCD)综合征

Oculo-facio-cardio-dental (OFCD) syndrome.

作者信息

Opitz C, Horn D, Lehmann R, Dimitrova T, Fasmers-Henke K

机构信息

Department of Orofacial Orthopedics and Orthodontics, Humboldt-University, Berlin, Germany.

出版信息

J Orofac Orthop. 1998;59(3):178-85. doi: 10.1007/BF01317179.

DOI:10.1007/BF01317179
PMID:9640004
Abstract

The association of facial dysmorphy, congenital cataracts, microphthalmia, heart disease, and dental radiculomegaly is very rare. We describe a girl with atrial septal defect, unilateral congenital cataract, unilateral microphthalmia, radiculomegaly of incisor and canine teeth with open apices and other dental crown anomalies. This combination of symptoms clearly represents a distinct syndrome and has recently been described as oculo-facio-cardio-dental (OFCD) syndrome.

摘要

面部畸形、先天性白内障、小眼症、心脏病和牙根粗大同时出现的情况非常罕见。我们描述了一名患有房间隔缺损、单侧先天性白内障、单侧小眼症、切牙和尖牙牙根粗大伴根尖开放及其他牙冠异常的女孩。这种症状组合显然代表了一种独特的综合征,最近被描述为眼-面-心-牙(OFCD)综合征。

相似文献

1
Oculo-facio-cardio-dental (OFCD) syndrome.眼-面-心-牙(OFCD)综合征
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2
Radiculomegaly: a case report of this rare dental finding with review of the associated oculo-facio-cardio-dental syndrome.神经根粗大:这一罕见牙科发现的病例报告及相关眼-面-心-牙综合征的综述
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引用本文的文献

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Oculo-facio-cardio-dental (OFCD) syndrome: a case report.眼面心牙(OFCD)综合征:病例报告。
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2
Eye development genes and known syndromes.眼发育基因与已知综合征。
Mol Genet Metab. 2011 Dec;104(4):448-56. doi: 10.1016/j.ymgme.2011.09.029. Epub 2011 Sep 29.
3
Oculo-facio-cardio-dental syndrome in a girl and her mother.一名女孩及其母亲患眼-面-心-牙综合征。

本文引用的文献

1
Oculo-facio-cardio-dental (OFCD) syndrome.眼-面-心-牙(OFCD)综合征
Clin Dysmorphol. 1997 Jul;6(3):281-3. doi: 10.1097/00019605-199707000-00014.
2
Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?两名智力正常、面部外观相似的无关成年女性患有白内障、神经根粗大、房间隔缺损和听力损失:一种综合征得到确认了吗?
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Oculo-facio-cardio-dental (OFCD) syndrome.
Indian J Hum Genet. 2010 Sep;16(3):169-71. doi: 10.4103/0971-6866.73416.
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Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.一名女童同时患杜氏肌营养不良症和X连锁眼-面-心-牙综合征的分子特征分析
Am J Med Genet A. 2009 Jun;149A(6):1249-52. doi: 10.1002/ajmg.a.32863.
5
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.对患有眼脑面骨发育不全和伦茨小眼综合征、伴有眼部异常的智力障碍以及心脏左右不对称缺陷患者的BCOR分析。
Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15.
眼-面-心-牙(OFCD)综合征
Am J Med Genet. 1996 May 3;63(1):290-2. doi: 10.1002/(SICI)1096-8628(19960503)63:1<290::AID-AJMG47>3.0.CO;2-G.
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Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
Clin Dysmorphol. 1993 Apr;2(2):114-9.
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Cuspid gigantism.
Oral Surg Oral Med Oral Pathol. 1980 Jun;49(6):500-1. doi: 10.1016/0030-4220(80)90070-5.
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A very long cuspid!
J Endod. 1986 Feb;12(2):80-1. doi: 10.1016/S0099-2399(86)80134-0.
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A very large maxillary cuspid.一颗非常大的上颌尖牙。
Oral Surg Oral Med Oral Pathol. 1990 Aug;70(2):159-60. doi: 10.1016/0030-4220(90)90110-e.
8
Radiculomegaly of canines and congenital cataracts--a syndrome?犬类神经根粗大与先天性白内障——一种综合征?
Oral Surg Oral Med Oral Pathol. 1990 Dec;70(6):802-3. doi: 10.1016/0030-4220(90)90025-n.
9
Radiculomegaly of canine teeth and congenital cataracts: confirmation of a syndrome.犬齿神经根粗大与先天性白内障:一种综合征的确证
Am J Med Genet. 1992 Jan 1;42(1):143. doi: 10.1002/ajmg.1320420132.