Abstract Abstract Introduction: Oral and dental (OD) disorders in children with Rubinstein-Taybi syndrome (RTS) are frequent but not well-known by dentists and pediatricians due to the syndrome being ...

Rubinstein-Taybi syndrome, also known as broad thumb-hallux syndrome, is a rare autosomal dominant genetic disorder. This multiorgan syndrome is linked to a pathogenic mutation in the CREBBP or EBP300 ...

References 1 Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588-608. 2 Rubinstein JH. Broad thumb-hallux ...

Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ...

We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus ...

Keywords: rubinstein-taybi syndrome, cutis marmorata telangiectatica congenita, CREBBP, case report, preterm Citation: Yang Y, Xiao J, Ye Y, Xiang J, Wang Z and Chen J (2023) Case report: A preterm ...