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缺指(趾)-外胚层发育不良-唇腭裂综合征(EEC综合征)

Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome).

作者信息

Marwaha Mohita, Nanda Kanwar Deep Singh

机构信息

Department of Pedodontics and Preventive Dentistry, SGT Dental College and Research Institute, Budhera, Tehsil - Gurgaon, Haryana, India.

出版信息

Contemp Clin Dent. 2012 Apr;3(2):205-8. doi: 10.4103/0976-237X.96831.

DOI:10.4103/0976-237X.96831
PMID:22919225
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3425108/
Abstract

The ectodermal dysplasias (EDs) are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

摘要

外胚层发育异常症(EDs)是一大类复杂的疾病。已识别并定义为外胚层发育异常症的不同临床病症超过170种。常见受累的外胚层衍生结构包括毛发、牙齿、指甲和汗腺。在某些情况下,它可能与智力发育迟缓有关。我们报告一例10岁男性儿童,患有缺指(趾)畸形、并指(趾)畸形、外胚层发育异常症、唇腭裂、听力丧失和智力发育迟缓。

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Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

本文引用的文献

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Two cases in which the skin, hair and teeth were very imperfectly developed.两例皮肤、毛发和牙齿发育极不完善的病例。
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Am J Hum Genet. 1970 Jul;22(4):370-7.
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The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.缺指(趾)-外胚层发育不良-唇腭裂综合征:一个显示显性遗传模式的家系报告。
Clin Genet. 1972;3(5):295-302. doi: 10.1111/j.1399-0004.1972.tb01461.x.
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Hypohidrotic ectodermal dysplasia.少汗型外胚层发育不良
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Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.缺指(趾)-外胚层发育不良-腭裂综合征(EEC综合征)。一家系报告及文献复习
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10
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.三例同胞患外胚层发育不良、智力迟钝、唇腭裂及其他异常。
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