Report of a new mutation in Colombia in a patient with Kabuki Syndrome

Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric c...

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Bibliographic Details
Published in:Iatreia (Medellín, Colombia) Colombia), 2020-01, Vol.33 (1), p.78-83
Main Authors: Hernández Woodbine, María José, del Castillo Rix, Daniel Sebastián, Baquero Mejía, Ingrid Carolina
Format: Article
Language:Spanish
Subjects:
cholangitis sclerosing
colombia
congenital abnormalities
genetic phenomena
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Summary:Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric case of Kabuki Syndrome to increase the recognition of the phenotype associated with it and the likelihood of a diagnosis with the use of a clinical case report. Case report: A nine-year-old male patient with clinical characteristics and probable genetic diagnosis of Kabuki Syndrome. He exhibits elongated eyelids, cleft palate, low auricular implantation, persistence of fingerpads, reduced height, and primary sclerosing cholangitis. Conclusion: Diagnostic suspicion of type one Kabuki Syndrome is characterized mainly by facial alterations. The following patient presents multiple distinctive characteristics described in literature. A genetic study considers the gene KMT2D a possible pathologic genetic variant of the disease.
ISSN:0121-0793
2011-7965
DOI:10.17533/udea.iatreia.38