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- 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
- 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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