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Neonatal phenotype in Kabuki syndrome.

Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA. klyons@ucsd.edu

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.

Published 3 February 2005 in Am J Med Genet A, 132(3): 244-7.
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