A new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and son
Date
2014
Authors
Bugaeva, Olena
Grechanina, Elena
Grechanina, Juliya
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Connective tissue dysplasias are characterized by the clinical polymorphism and genetic heterogeneity. Each new patient with Ehlers - Danlos syndrome, according to our observations is potentially a new variant of the syndrome.
Description
A new variant of Ehlers-Danlos syndrome has been diagnosed in the mother and son with the phenotype associated with metabolism errors of mucopolysaccharides, hypermobility of joints, hepatosplenomegaly, an early common varicose disease, muscular hypotonia due to lower activity of MTHFR G1793A/MTRR A66G enzymes.
Keywords
Ehlers-Danlos syndrome, mucopolysaccharide metabolism
Citation
Bugaeva E. V. A new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and son / E. V. Bugaeva, E. Y. Grechanina, Y. B. Grechanina // European Journal of Human Genetics. – 2014. – Vol. 25, suppl. 1 : European Human Genetics Conference, Milan, May 31 – June 3, 2014 : abstracts. – P. 500.