| Autor: |
Vaux, Keith K., Hudgins, Louanne, Bird, Lynne M., Roeder, Elizabeth, Curry, Cynthia J.R., Jones, Marilyn, Jones, Kenneth L. |
| Zdroj: |
American Journal of Medical Genetics. Part A; January 2005, Vol. 132 Issue: 3 p244-247, 4p |
| Abstrakt: |
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 2004 Wiley‐Liss, Inc. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
Plný text