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缺牙与指甲发育异常综合征。病例报告。

Hypodontia and nail dysplasia syndrome. Report of a case.

作者信息

Murdoch-Kinch C A, Miles D A, Poon C K

机构信息

Indiana University School of Dentistry, Indianapolis.

出版信息

Oral Surg Oral Med Oral Pathol. 1993 Mar;75(3):403-6. doi: 10.1016/0030-4220(93)90159-2.

DOI:10.1016/0030-4220(93)90159-2
PMID:8469557
Abstract

The ectodermal dysplasias are a clinically and genetically heterogeneous group of more than 120 syndromes involving ectodermally derived structures. The syndrome that is autosomal dominantly inherited and characterized by hypodontia, dysplastic nails, and normal hair is known as hypodontia-nail dysplasia syndrome, or tooth-and-nail syndrome. Because of the minimal manifestations, this syndrome may be difficult to diagnose. Patients with hypodontia should be examined for dysplastic nails of the hands and feet and referred to medical and dental genetic specialists for verification of the diagnosis and counseling. We report a case of tooth-and-nail syndrome in a young woman.

摘要

外胚层发育异常是一组临床和遗传异质性的综合征,有120多种,累及外胚层来源的结构。常染色体显性遗传、以牙发育不全、指甲发育异常和毛发正常为特征的综合征被称为牙发育不全-指甲发育异常综合征,或牙-甲综合征。由于临床表现轻微,该综合征可能难以诊断。牙发育不全的患者应检查手足指甲是否发育异常,并转诊至医学和牙科遗传学专家处进行诊断核实和咨询。我们报告了一名年轻女性患牙-甲综合征的病例。

相似文献

1
Hypodontia and nail dysplasia syndrome. Report of a case.缺牙与指甲发育异常综合征。病例报告。
Oral Surg Oral Med Oral Pathol. 1993 Mar;75(3):403-6. doi: 10.1016/0030-4220(93)90159-2.
2
Witkop tooth and nail syndrome: report of two cases in a family.维特科普指甲牙齿综合征:一家族中的两例报告。
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Witkop's tooth and nail syndrome: a multifaceted approach to dental management.维特科普氏牙与甲综合征:牙科管理的多方面方法。
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Witkop tooth and nail syndrome: a case report.维特科普指甲与牙齿综合征:一例报告
Int J Paediatr Dent. 2005 Sep;15(5):364-9. doi: 10.1111/j.1365-263X.2005.00647.x.
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The "tooth and nail" type of autosomal dominant ectodermal dysplasia.“咬牙切齿”型常染色体显性外胚层发育不良
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Tooth and nail syndrome: genetic, clinical and dermatoglyphic findings: case report.
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ADULT syndrome: dental features of a very rare condition.成人型综合征:一种非常罕见病症的牙齿特征。
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ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.成人综合征:一种常染色体显性疾病,伴有色素异常、缺指(趾)畸形、指甲发育异常和牙发育不全。
Am J Med Genet. 1993 Mar 1;45(5):642-8. doi: 10.1002/ajmg.1320450525.
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Witkop tooth and nail syndrome: a report of three cases in a family.维特科普指甲与牙齿综合征:一家系三例报告
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Hereditary hypodontia and onychorrhexis of the fingernails and toenail koilonychia: Witkop's tooth-and nail syndrome.遗传性缺牙、指甲纵裂和匙状甲:维特科普氏牙-甲综合征。
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引用本文的文献

1
A nonsense mutation in MSX1 causes Witkop syndrome.MSX1基因中的无义突变导致维特科普综合征。
Am J Hum Genet. 2001 Jul;69(1):67-74. doi: 10.1086/321271. Epub 2001 May 16.