Speech characteristics in the Kabuki syndrome
โ Scribed by Upton, Sheila ;Stadter, Carmella S. ;Landis, Pat ;Wulfsberg, Eric A.
- Book ID
- 101450433
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 158 KB
- Volume
- 116A
- Category
- Article
- ISSN
- 0148-7299
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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
## Abstract Kabuki syndrome is associated with abnormalities in multiple organ systems. While many of the anomalies are congenital malformations, other clinical manifestations may not appear until later in childhood. Among these associated conditions, autoimmune abnormalities have been described in