Suppr超能文献

三位类似于 Teebi-Shaltout 综合征的患者。

Three patients resembling Teebi-Shaltout syndrome.

机构信息

Mersin Maternity and Children Hospital, Medical Genetic Department, Mersin, Turkey.

出版信息

Am J Med Genet A. 2013 Oct;161A(10):2570-5. doi: 10.1002/ajmg.a.36082. Epub 2013 Aug 5.

Abstract

Teebi-Shaltout syndrome (TSS) was first reported by Teebi and Shaltout in 1989. This entity is proposed to be inherited in autosomal recessive manner. The clinical features include characteristic facial features, ectodermal dysplasia, camptodactyly, and caudal appendage. Only one additional paper reporting four additional cases has been published since the first description. Clinical features common to all previously affected individuals diagnosed with TSS are craniofacial, orodental-ectodermal, and skeletal. This report summarizes and discusses the findings of three additional patients from two unrelated families with findings similar to TSS. These findings may be present in a genetically and phenotypically heterogeneous group of disorders similar to TSS. Presence of consanguinity and similarly affected siblings of both genders suggests autosomal recessive inheritance.

摘要

特比-沙特奥特综合征(TSS)于 1989 年由 Teebi 和 Shaltout 首次报道。该病症拟以常染色体隐性遗传方式遗传。其临床特征包括特征性的面部特征、外胚层发育不良、指(趾)弯曲和尾状附属物。自首次描述以来,仅有一篇额外的论文报道了另外 4 例病例。所有先前诊断为 TSS 的受累个体的临床特征均为颅面、口颌-外胚层和骨骼。本报告总结并讨论了来自两个无关家庭的另外 3 名患者的发现,这些患者的发现与 TSS 相似。这些发现可能存在于一组遗传和表型相似的类似于 TSS 的疾病中。存在近亲婚配和两性同样受累的兄弟姐妹提示常染色体隐性遗传。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验