Ectodermal abnormalities in Kabuki syndrome.

TitleEctodermal abnormalities in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication1997
AuthorsLerone M, Priolo M, Naselli A, Vignolo M, Romeo G, Silengo MC
JournalAmerican journal of medical genetics
Date Published1997 Dec 19

We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisorsi, 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 abnormalities have never been investigated in NKS. The ectodermali involvement in NKS could represent an important clue for the understanding of the pathogenesisi of this syndrome.

Alternate JournalAm. J. Med. Genet.
Citation Key9415681