Kabuki syndrome and cancer in two patients

Am J Med Genet A. 2010 Jun;152A(6):1536-9. doi: 10.1002/ajmg.a.33405.

Abstract

Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as Beckwith-Wiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has been reported. In this paper we present two patients with Kabuki syndrome and a neoplasm: a child of 6 years with hepatoblastoma and an infant, of 6 months affected by neuroblastoma.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Adrenal Gland Neoplasms / diagnosis*
  • Adrenal Gland Neoplasms / diagnostic imaging
  • Adrenal Gland Neoplasms / genetics
  • Child
  • Facies*
  • Female
  • Hepatoblastoma / diagnosis*
  • Hepatoblastoma / genetics
  • Humans
  • Infant
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Liver Neoplasms / diagnosis*
  • Liver Neoplasms / genetics
  • Male
  • Neuroblastoma / diagnosis*
  • Neuroblastoma / diagnostic imaging
  • Neuroblastoma / genetics
  • Radiography
  • Syndrome