title: Ectodermal abnormalities in Kabuki syndrome.
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.
authors.affiliation: Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: M
authors.initials: M
authors.lastname: Priolo
authors.forename: A
authors.initials: A
authors.lastname: Naselli
authors.forename: M
authors.initials: M
authors.lastname: Vignolo
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: M C
authors.initials: MC
authors.lastname: Silengo
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000848:Anodontia / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D006197:Hair / Q000002:abnormalities; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008607:Intellectual Disability / Q000235:genetics; D009264:Nails, Malformed; D013577:Syndrome