Ectodermal abnormalities in Kabuki syndrome.
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.
Lerone
M
M
Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
Priolo
M
M
Naselli
A
A
Vignolo
M
M
Romeo
G
G
Silengo
M C
MC
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