Case Report and Systematic Review of SSR4-CDG Neonatal Heart Defects

28 total cases of SSR4-CDG were analyzed, including a new case report and a systematic review of 24 published cases. The data describes clinical features, with congenital heart defects present in 32.1% of patients. The review was authored by Lingxia Zhao and includes literature published up to December 2025.

Use Cases

• Analyze the frequency of congenital heart defects (CHDs) across the 28 SSR4-CDG cases to quantify cardiac involvement.
• Identify patterns in age-dependent phenotypic expression by examining clinical feature frequency across different age groups.
• Extract detailed clinical manifestations like dysmorphism, hypotonia, and brain MRI findings from the case report text for phenotype modeling.
• Study the association between specific genetic variants (e.g., 65.63 kb hemizygous deletion at Xq28) and severe neonatal presentations.

Strengths

• Includes a detailed new case report with the earliest postnatal diagnosis (day of life 6) of SSR4-CDG.
• Systematic review aggregates data from 24 previously published cases for a pooled analysis of 28 patients.
• Quantifies the prevalence of key clinical features, such as congenital heart defects in 32.1% (9/28) of cases.

Limitations

• Very small sample size of 28 total cases limits statistical power and generalizability.
• Data is descriptive from a literature review; no formal meta-analysis was performed due to case heterogeneity.
• The primary data is unstructured text in a DOCX file, requiring manual or NLP extraction for computational analysis.

Provenance

Source

figshare, authored by Lingxia Zhao.

Collection Method

Systematic literature review and a new clinical case report.

Time Range

Literature published up to December 2025.

Freshness

Literature review includes reports published up to December 2025; document last updated March 2026.

Geography

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