• A&A practice · Feb 2018

    Anesthetic Considerations for a Child With Rare B3GALT6 Mutations: A Case Report.

    • Megan Brockel, Kathryn Chatfield, David Mirsky, Christopher D Baker, and Norah Janosy.
    • From the Department of Anesthesiology, Section of Pediatric Anesthesiology, Department of Pediatrics, Section of Cardiology, Department of Radiology, and Department of Pediatrics, Section of Pulmonary Medi... more cine, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado. less
    • A A Pract. 2018 Feb 15; 10 (4): 83-86.

    AbstractA rare autosomal recessive disorder caused by mutations in the B3GALT6 gene on chromosome 1p36 results in deficiency of β-1,3-galactosyltransferase 6, an enzyme critical for glycosaminoglycan biosynthesis. Defects in this gene result in a phenotype that has features of both skeletal dysplasia and a connective tissue disorder. The anesthetic considerations for children with this disorder have not previously been described. We report a collaborative, multidisciplinary approach to the perioperative care of a child with B3GALT6 mutations with severe phenotypic expression.

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