鲁宾斯坦-泰比综合征的口腔和牙齿表现:罕见病例报告。

Madiraju Gunashekhar, Mohammad Shahul Hameed, Syed Kamran Bokhari
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引用次数: 10

摘要

鲁宾斯坦-泰比综合征,或宽拇指拇趾综合征,是一种定义明确的罕见先天性疾病,其特征是出生后生长缺陷、颅面畸形、宽拇指和大脚趾以及智力迟钝(智力残疾)。发生可能是散发的,也可能是常染色体显性遗传。文献中关于Rubinstein-Taybi综合征的报道很少。本病例报告描述了一名13岁印度女性Rubinstein-Taybi综合征的口腔和牙面表现,包括罕见的爪尖和未长出的多余牙齿。
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Oral and dental manifestations in Rubinstein-Taybi syndrome: report of a rare case.

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.

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