Niikawa-Kuroki (Kabuki) syndrome in two siblings

Minerva Pediatr. 2001 Feb;53(1):43-8.

Abstract

The Niikawa-Kuroki (Kabuki make-up) syndrome is a recognizable pattern of malformation consisting of mental retardation, dysmorphic cranio-facial features, bone and joint anomalies, postnatal growth deficiency and susceptibility to infections. Two male siblings, 8 and 5 years of age, displaying characteristic clinical and radiological manifestations of this syndrome as well as their father, who displays only some of the facial features, are presented.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adult
  • Arthrography
  • Bone and Bones / abnormalities*
  • Bone and Bones / diagnostic imaging
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Joints / abnormalities*
  • Male
  • Syndrome