title: Neonatal phenotype in Kabuki syndrome.
abstract: The Kabuki syndrome is a well-established pattern of human malformation with readily recognizable features, however the diagnosis is rarely made in the newborn period. The purpose of this study was to determine if there exists a neonatal phenotype for this disorder. We ascertained 16 infants evaluated in the first 28 days of life by a dysmorphologist who subsequently received the diagnosis of Kabuki syndrome. The average age of initial evaluation was 8 days and the average age of diagnosis was 2 years 6 months. Based on these findings, it is suggested that the distinctive clinical phenotype seen in older patients is also evident in the newborn period.
authors.affiliation: Department of Pediatrics, University of California, San Diego, La Jolla, California, USA. klyons@ucsd.edu
authors.forename: Keith K
authors.initials: KK
authors.lastname: Vaux
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
authors.forename: Lynne M
authors.initials: LM
authors.lastname: Bird
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Roeder
authors.forename: Cynthia J R
authors.initials: CJ
authors.lastname: Curry
authors.forename: Marilyn
authors.initials: M
authors.lastname: Jones
authors.forename: Kenneth L
authors.initials: KL
authors.lastname: Jones
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology*; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome