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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(s) -
McKenzie F.A.,
Fietz M.,
Fletcher J.,
Smith R.L.L.,
Wright I.M.R.,
Jaeken J.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31867
Subject(s) - hydrops fetalis , hypoproteinemia , medicine , pediatrics , respiratory distress , enteropathy , fetus , pregnancy , surgery , biology , genetics , disease
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. © 2007 Wiley‐Liss, Inc.