Mersin Maternity and Children Hospital, Medical Genetic Department, Mersin, Turkey.
Am J Med Genet A. 2013 Oct;161A(10):2570-5. doi: 10.1002/ajmg.a.36082. Epub 2013 Aug 5.
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.
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。
