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 abnormal...

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Veröffentlicht in:	American journal of medical genetics 1997-12, Vol.73 (3), p.263-266
Hauptverfasser:	Lerone, Margherita, Priolo, Manuela, Naselli, Arturo, Vignolo, Marina, Romeo, Giovanni, Silengo, Margherita Cirillo
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - pathology absent teeth Anodontia - pathology Biological and medical sciences Bone and Bones - abnormalities brachydactyly Child Complex syndromes conical teeth ectodermal dysplasia Face - abnormalities Female Hair - abnormalities Hearing Loss, Sensorineural - genetics Humans Incisor - abnormalities Intellectual Disability - genetics long palpebral fissures Medical genetics Medical sciences mental retardation Nails, Malformed Niikawa-Kuroki syndrome short stature Syndrome trichorrhexis nodosa
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Zusammenfassung:	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. Am. J. Med. Genet. 73:263–266, 1997. © 1997 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19971219)73:3<263::AID-AJMG6>3.0.CO;2-T