Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
 

Learn about the flu shot, COVID-19 vaccine, and our masking policy »

Stanford Health Care

Neonatal phenotype in Kabuki syndrome 23rd David W Smith Workshop on Malformations and Morphogenesis Vaux, K. K., Hudgins, L., Bird, L. M., Roeder, E., Curry, C. J., Jones, M., Jones, K. L. WILEY-LISS. 2005: 244–47

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 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.

View details for DOI 10.1002/ajmg.a.30336

View details for Web of Science ID 000226181500003

View details for PubMedID 15690369