Further delineation of the KBG syndrome

Genet Couns. 1998;9(3):191-4.

Abstract

Further Delineation of the KBG syndrome: We present a mother and her daughter with clinical features of KBG syndrome, including mild mental retardation, distinct facial features, macrodontia and skeletal anomalies. In the daughter, a heart defect (ventricular septal defect) was present.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Bone and Bones / abnormalities*
  • Bone and Bones / diagnostic imaging
  • Child
  • Face / abnormalities*
  • Face / diagnostic imaging
  • Family
  • Female
  • Fingers / abnormalities*
  • Fingers / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Radiography
  • Syndrome