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Neonatal phenotype in Kabuki syndrome

✍ Scribed by Keith K. Vaux; Louanne Hudgins; Lynne M. Bird; Elizabeth Roeder; Cynthia J.R. Curry; Marilyn Jones; Kenneth L. Jones


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
134 KB
Volume
132A
Category
Article
ISSN
1552-4825

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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

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## 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

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## Abstract Over the last 20 years, a wide spectrum of congenital anomalies have been described in association with Kabuki syndrome (KS). However, very little information is available on developmental outcome. As more individuals with this syndrome are recognized and reported, it appears that as ma