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Neonatal phenotype in Kabuki syndrome
Keith K Vaux1, Louanne Hudgins, Lynne M Bird
1Department of Pediatrics, University of California, San Diego, La Jolla, California, USA. klyons@ucsd.edu
American Journal of Medical Genetics. Part A
|February 4, 2005
Summary
Kabuki syndrome, a rare genetic disorder, often goes undiagnosed in newborns. This study suggests a distinct neonatal phenotype exists, aiding earlier identification of Kabuki syndrome in infants.
Area of Science:
- Genetics
- Pediatrics
- Clinical Dysmorphology
Background:
- Kabuki syndrome is a recognized pattern of human malformation.
- Diagnosis is infrequently established during the neonatal period.
Purpose of the Study:
- To investigate the existence of a neonatal phenotype for Kabuki syndrome.
- To identify early clinical indicators for Kabuki syndrome in newborns.
Main Methods:
- Retrospective review of 16 infants diagnosed with Kabuki syndrome.
- Evaluation of infants within the first 28 days of life by a dysmorphologist.
Main Results:
- The average age at initial evaluation was 8 days.
- The average age at diagnosis was 2 years and 6 months, indicating a diagnostic delay.
- Distinctive clinical features, characteristic of Kabuki syndrome, were observed in the neonatal period.
Conclusions:
- A specific neonatal phenotype for Kabuki syndrome is suggested.
- Early identification of Kabuki syndrome in newborns is possible through recognition of specific dysmorphic features.
- Earlier diagnosis can potentially lead to timely intervention and improved outcomes for affected infants.