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眼-面-心-牙综合征:1例罕见病例报告。

Oculo-facio-cardio-dental syndrome: report of a rare case.

作者信息

Türkkahraman Hakan, Sarioğlu Mehmet

机构信息

Department of Orthodontics, Faculty of Dentistry, University of Suleyman Demirel, Isparta, Turkey.

出版信息

Angle Orthod. 2006 Jan;76(1):184-6. doi: 10.1043/0003-3219(2006)076[0184:OSROAR]2.0.CO;2.

DOI:10.1043/0003-3219(2006)076[0184:OSROAR]2.0.CO;2
PMID:16448290
Abstract

Oculo-facio-cardio-dental (OFCD) syndrome is an extremely rare condition with ocular, facial, cardiac, and dental abnormalities. It is often unrecognized by many medical and dental professionals. Only 17 cases have been documented to date. Because all reported patients have been female, it has been suggested that OFCD syndrome is an X-linked dominant trait. Isolation and diagnosis of this syndrome is hard for the medical specialists. Only unique and specific findings are observed in dental and skeletal structures, which can easily be diagnosed by an orthodontist or general dentist. Therefore, it was the aim of this study to present a new case of this syndrome and to evaluate it from an orthodontic perspective in order to call the attention of orthodontists to this rare anomaly.

摘要

眼-面-心-牙(OFCD)综合征是一种极为罕见的疾病,伴有眼部、面部、心脏和牙齿异常。许多医学和牙科专业人员常常对此缺乏认识。迄今为止,仅有17例病例被记录在案。由于所有报告的患者均为女性,因此有人提出OFCD综合征是一种X连锁显性性状。对于医学专家而言,分离和诊断这种综合征颇具难度。在牙齿和骨骼结构中仅观察到独特且特定的表现,正畸医生或普通牙医能够轻易诊断出来。因此,本研究的目的是报告该综合征的一例新病例,并从正畸角度对其进行评估,以引起正畸医生对这种罕见异常的关注。

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1
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引用本文的文献

1
Oculo-facio-cardio-dental (OFCD) syndrome: a case report.眼面心牙(OFCD)综合征:病例报告。
J Med Case Rep. 2024 Jan 4;18(1):18. doi: 10.1186/s13256-023-04244-x.
2
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。
Indian J Hum Genet. 2010 Sep;16(3):169-71. doi: 10.4103/0971-6866.73416.
3
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.