Louanne Hudgins

Publication Details

  • Neonatal phenotype in Kabuki syndrome AMERICAN JOURNAL OF MEDICAL GENETICS PART A Vaux, K. K., Hudgins, L., Bird, L. M., Roeder, E., Curry, C. J., Jones, M., Jones, K. L. 2005; 132A (3): 244-247

    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

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