Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344078 | Molecular Genetics and Metabolism | 2013 | 6 Pages |
Abstract
We describe two Vietnamese siblings with confirmed ALG3-CDG (CDG-Id) by molecular testing. As far as we are aware, they are the oldest reported patients in the literature at 15 and 21Â years. They share similar clinical features with previously reported patients including facial dysmorphism, severe psychomotor retardation, microcephaly, seizures, and gastrointestinal symptoms. Furthermore, our sibling pair highlights the intrafamilial variability, the natural clinical course of ALG3-CDG (CDG-Id) and the benefit of reassessing patients with undiagnosed and complex syndromes, particularly when they present with neurological deterioration.
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Authors
Suzi Riess, Dinah Susan Reddihough, Katherine Brooke Howell, Charuta Dagia, Jaak Jaeken, Gert Matthijs, Joy Yaplito-Lee,