Neonatal phenotype in Kabuki syndrome.
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.
Vaux
Keith K
KK
Department of Pediatrics, University of California, San Diego, La Jolla, California, USA. klyons@ucsd.edu
Hudgins
Louanne
L
Bird
Lynne M
LM
Roeder
Elizabeth
E
Curry
Cynthia J R
CJ
Jones
Marilyn
M
Jones
Kenneth L
KL
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