An unusual case of KBG syndrome with unique oral findings

BMJ Case Rep. 2015 Jul 17;2015:bcr2015210352. doi: 10.1136/bcr-2015-210352.


KBG syndrome is a condition characterised by macrodontia, neurological disturbance, short stature, a distinct cranio-facial appearance, and skeletal anomalies. The authors describe what appears to be the first case of KBG syndrome reported from the Indian subcontinent. Meticulous evaluation of the dental findings helps to identify such cases which may otherwise remain undiagnosed. Further research is warranted to determine the classic and variant presentations of this condition, with follow-up data providing valuable insights into its natural history and long-term prognosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / pathology
  • Bone Diseases, Developmental / diagnosis*
  • Bone Diseases, Developmental / pathology
  • Child
  • Facies
  • Female
  • Humans
  • India
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / pathology
  • Syndrome
  • Tooth Abnormalities / diagnosis*
  • Tooth Abnormalities / pathology
  • Tooth*

Supplementary concepts

  • KBG syndrome