Gunashekhar Madiraju, Hameed Mohammad Shahul, Bokhari Syed Kamran
Prim Dent Care. 2012 Jan;19(1):35-8. doi: 10.1308/135576112798990773.
Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth.
鲁宾斯坦-泰比综合征，又称宽拇指-拇趾综合征，是一种明确的罕见先天性疾病，其特征为出生后生长发育迟缓、颅面部畸形、拇指和拇趾宽阔以及智力迟钝（智力残疾）。其发病可能为散发性，也可能通过常染色体显性遗传。文献中关于鲁宾斯坦-泰比综合征的报道较少。本病例报告描述了一名13岁印度女性患鲁宾斯坦-泰比综合征的口腔和牙颌面表现，包括罕见的牙尖和一颗未萌出的多生牙。
