Neonatal phenotype in Kabuki syndrome.
Title | Neonatal phenotype in Kabuki syndrome. |
Publication Type | Journal Article |
Year of Publication | 2005 |
Authors | Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJR, Jones MC, Jones KL |
Journal | American journal of medical genetics. Part A |
Volume | 132A |
Issue | 3 |
Pagination | 244-7 |
Date Published | 2005 Jan 30 |
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 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 Journal | Am. J. Med. Genet. A |
Citation Key | 15690369 |
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