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Ectodermal abnormalities in Kabuki syndrome

✍ Scribed by Lerone, Margherita; Priolo, Manuela; Naselli, Arturo; Vignolo, Marina; Romeo, Giovanni; Silengo, Margherita Cirillo

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 27 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971219)73:3<263::aid-ajmg6>3.0.co;2-t

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✦ Synopsis

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 abnormalities have never been investigated in NKS. The ectodermal involvement in NKS could represent an important clue for the understanding of the pathogenesis of this syndrome.

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