Oro‐dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

Abstract

Rubinstein–Taybi syndrome (RTS; OMIM # 180849) is a well‐known disorder characterized by mental and growth retardation, broad thumbs and great toes, and unusual facial characteristics. We studied oro‐dental findings in a group of RTS patients: 12 from the UK, 2 from Greece, and 26 from France. All were examined by two investigators, using the Diagnosing Dental Defects Database record form to document these. Various oro‐dental features were found: small mouth, retrognathia, micrognathia, highly arched and narrow palate, talon cusps, expressed crowding, screwdriver incisors, cross bites, and enamel hypoplasia. Eruption was usually normal. Specific attention for these anomalies should facilitate diagnosis and help adequate management. © 2007 Wiley‐Liss, Inc.

Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

“…The main clinical symptoms are failure to thrive, cardiac defects and recurrent respiratory infections 4. Other variable findings are colobomas, cataracts, renal anormalities3,4 and oro-dental anomalies 5. RTS patients also have an increased risk of developing neoplasias 6,7.…”

Dental management of a patient with Rubinstein-Taybi syndrome

“…Dental abnormalities occur in 67% of individuals with RTS, and can include hypodontia, hyperdontia, maintenance of deciduous teeth, talon cusps, and enamel hypoplasia. An increased rate of caries and periodontal disease has been reported in these patients 11–13 . However, periodontal disease has not always been associated with this syndrome.…”

Rubinstein-Taybi syndrome: Dental manifestations and management

“…The oral features of RSTS have been reviewed extensively by Hennekam and Van Doorne [6] and Bloch-Zupan et al, [7] and are mentioned by several other authors. [11][12][13][14][15][16][17] Dental talon cusps are present in a high proportion of persons with RSTS, [12] but this feature was absent in our patients.…”