KBG syndrome: review of the literature and findings of 5 affected patients

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 Sep;108(3):e72-9. doi: 10.1016/j.tripleo.2009.04.035.

Abstract

KBG syndrome is a rare, multiple congenital anomaly/mental retardation (MCA/MR) syndrome characterized by neurological disturbance, short stature, a distinct craniofacial appearance, and skeletal anomalies. It is likely to be autosomal dominant in nature with a wide range of expressivity in its clinical features. Dentally, macrodontia, particularly of the maxillary permanent central incisors is a common finding. The aim of this article was to review the familiar clinical presentations of this syndrome and to highlight previously unreported findings of generalized macrodontia and shovel-shaped incisors. Dental and clinical findings of 2 affected brothers with a 3-year follow-up of their dental progress following orthodontic treatment are outlined. Additionally, dental and clinical findings of an affected mother and her daughter, and another sporadic case are also presented.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Adult
  • Bone and Bones / abnormalities
  • Cephalometry
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology*
  • Dwarfism / pathology
  • Female
  • Follow-Up Studies
  • Humans
  • Incisor / abnormalities*
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Male
  • Malocclusion, Angle Class I / pathology
  • Malocclusion, Angle Class II / pathology
  • Syndrome
  • Tooth Abnormalities / genetics
  • Tooth Abnormalities / pathology*
  • Young Adult