Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome

Am J Med Genet A. 2007 Mar 15;143A(6):570-3. doi: 10.1002/ajmg.a.31622.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Humans
  • Middle Aged
  • Mouth Abnormalities*
  • Rubinstein-Taybi Syndrome / diagnosis*
  • Tooth Abnormalities*