Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p
Rubinstein-Taybi syndrome is a multiple anomalies congenital disorder characterised by broad thumb and halluces, facial dysmorphism with mental and growth retardation. Oral features include small mouth, retro and micronagthic jaws, highly arched and narrow palate. Dental anomalies such as teeth with talon cusps and screwdriver shaped permanent incisors together with crowded teeth are common features in these patients. Although hyperdontia is said to be one of the features of this condition, nevertheless, presence of multiple supernumerary teeth has never been documented. This report highlighted a case of an eleven-year-old boy with Rubinstein-Taybi syndrome referred for unerupted permanent incisors who exhibited multiple supernumerary teeth radiographically.
Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder that occurs due to a microdeletion of chromosome 16p13. The craniofacial abnormalities in these patients may pose a challenge for anaesthetist performing tracheal intubation. However, there are no known reported cases of drug interaction with non-depolarising muscle relaxant in patients with RTS. This young patient with RTS presented with an unexpected prolonged atracurium effect during the course of anaesthesia. After ruling out other possible causes, we have come to a conclusion that RTS itself could have played a role in the prolonged effect of atracurium. However, further studies will be needed to confirm this hypothesis. In the meantime, care should be used when using muscle relaxants in patients with RTS.