Neonatal phenotype in Kabuki syndrome.

TitleNeonatal phenotype in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2005
AuthorsVaux KK, Hudgins L, Bird LM, Roeder E, Curry CJR, Jones MC, Jones KL
JournalAmerican journal of medical genetics. Part A
Date Published2005 Jan 30

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 phenotypei 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.

Alternate JournalAm. J. Med. Genet. A
Citation Key15690369