Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia|
|Citation:||American Journal of Medical Genetics. Part A, 2007; 143A(17):2029-2034|
|F.A. McKenzie, M. Fietz, J. Fletcher, R.L.L. Smith, I.M.R. Wright, J. Jaeken|
|Abstract:||We present two siblings with a previously undescribed congenital disorder of glycosylation (CDG). The first child died in utero with severe hydrops fetalis and the second presented following preterm delivery with respiratory insufficiency, generalised edema and a protein-losing enteropathy. Both had a similar pattern of facial dysmorphism and joint contractures. The diagnosis of CDG-I was made following the birth of the second child based on the serum transferrin isoform pattern. CDG-Ia and -Ib were excluded by specific enzyme analysis. Joint contractures are a relatively uncommon finding in CDG, although fetal hydrops (CDG-Ia) and protein-losing enteropathy (CDG-Ib) are well recognized. CDG must be considered in the differential diagnosis of hydrops fetalis, congenital hypoproteinemia and death in early infancy, particularly when associated with dysmorphic features.|
|Keywords:||CDG; congenital disorder of glycosylation; hydrops fetalis; protein-losing enteropathy; joint contractures; arthrogryposis; fetal death|
|Appears in Collections:||Molecular and Biomedical Science publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.