Kabuki syndrome and cancer in two patients
β Scribed by Manuela Tumino; Maria Licciardello; Giovanni Sorge; Maria Concetta Cutrupi; Fabrizio Di Benedetto; Loredana Amoroso; Roberta Catania; Monica Pennisi; Salvatore D'Amico; Andrea Di Cataldo
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 96 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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β¦ Synopsis
Abstract
Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as BeckwithβWiedemann 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. Β© 2010 WileyβLiss, Inc.
π SIMILAR VOLUMES
syndrome and at left, atresia aural and microtia, signs not described in this condition. It is possible that microtia represent an additional feature in Kabuki syndrome, or, this uncommon association may represent two distinctive conditions: Kabuki syndrome and microtia, aural atresia and conductive
We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisors, hypodontia, hypoplastic nails, and brittle hair. Abnormal teeth are common in NKS and support a hypothesis of autosomal dominant inheritance of the syndrome [Halal et al., 1989; Silengo et al., 1996]. Hair abnormal