ArticleFrontiers in pediatrics2026
Early neonatal diagnosis of SSR4-related congenital disorder of glycosylation with severe congenital heart defects: a case report and systematic review.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy.Frontiers in neurology · 2026Review
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4 authors.
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Abstract
Background: Congenital disorders of glycosylation type Iy (SSR4-CDG, CDG1Y) is an ultra-rare X-linked disorder caused by pathogenic variants in the Case presentation: We report a male neonate with the earliest postnatal diagnosis of SSR4-CDG (day of life 6). Prenatal testing revealed a novel, maternally inherited 65.63 kb hemizygous deletion at Xq28, encompassing Literature review & analysis: A systematic review of the literature, including reports published up to December 2025, identified 24 previously published cases. Pooled analysis incorporating the present patient ( Conclusions: This case expands the neonatal phenotype of SSR4-CDG and highlights that, in some patients, severe congenital heart defects may represent an early and clinically significant manifestation. However, based on currently available evidence, cardiac anomalies remain an uncommon feature of the disorder. Prompt genetic evaluation should be considered in affected male neonates with syndromic features.
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