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Type: Journal article
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
Author: McKenzie, F.
Fietz, M.
Fletcher, J.
Smith, R.
Wright, I.
Jaeken, J.
Citation: American Journal of Medical Genetics. Part A, 2007; 143A(17):2029-2034
Publisher: Wiley-Liss
Issue Date: 2007
ISSN: 1552-4825
Statement of
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
RMID: 0020072199
DOI: 10.1002/ajmg.a.31867
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Appears in Collections:Molecular and Biomedical Science publications

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