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PubMed · 9415681

Ectodermal abnormalities in Kabuki syndrome.

M Lerone·M Priolo·A Naselli·M Vignolo·G Romeo·M C Silengo
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Abstract

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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Abnormalities, MultipleAnodontiaBone and BonesChildFaceFemaleHairHearing Loss, SensorineuralHumansIncisorIntellectual DisabilityNails, MalformedSyndromeCase ReportsJournal ArticleReview

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BibTeXRIS

M Lerone, M Priolo, A Naselli, M Vignolo, G Romeo, M C Silengo. 1997-12-19. Ectodermal abnormalities in Kabuki syndrome.. https://doi.org/10.1002/(sici)1096-8628(19971219)73%3A3%3C263%3A%3Aaid-ajmg6%3E3.0.co%3B2-t

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