Kabuki syndrome and cancer in two patients.

TitleKabuki syndrome and cancer in two patients.
Publication TypeJournal Article
Year of Publication2010
AuthorsTumino M, Licciardello M, Sorge G, Cutrupi MC, Di Benedetto F, Amoroso L, Catania R, Pennisi M, D'Amico S, Di Cataldo A
JournalAmerican journal of medical genetics. Part A
Date Published2010 Jun
KeywordsAbnormalities, Multiple, Adrenal Gland Neoplasms, Child, Facies, Female, Hepatoblastoma, Humans, Infant, Liver Neoplasms, Male, Mental Retardation, Neuroblastoma, Syndrome

Both hepatoblastoma and neuroblastoma are occasionally associated with congenitali syndromes such as Beckwith-Wiedemann syndrome and trisomyi 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.

Alternate JournalAm. J. Med. Genet. A
Citation Key408