The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype

Am J Med Genet A. 2004 Oct 15;130A(3):284-7. doi: 10.1002/ajmg.a.30291.


We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Adult
  • Bone and Bones / abnormalities*
  • Child
  • Developmental Disabilities / pathology*
  • Family Health
  • Female
  • Genes, Dominant / genetics
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Syndrome
  • Tooth Abnormalities*
  • Turkey