Objective:

To report a case of Stüve-Wiedemann syndrome in an infant and identify a novel LIFR variant, highlighting its significance in diagnosis and management.

Key Findings:

• The identified variant (c.823G>T, p.Glu275Ter) is classified as likely pathogenic, indicating a significant risk for the patient.
• Stüve-Wiedemann syndrome is characterized by bowed long bones, joint contractures, and severe dysautonomia, which complicates management.
• The infant exhibited prenatal and postnatal symptoms consistent with the syndrome, including intrauterine growth restriction and feeding difficulties, which are critical for early intervention.
• Dysautonomia is a significant contributor to early mortality, with a global mortality rate of 46%, emphasizing the need for vigilant monitoring.

Interpretation:

Molecular confirmation of LIFR variants can differentiate Stüve-Wiedemann syndrome from other skeletal dysplasias, aiding in accurate diagnosis and management strategies.

Limitations:

• The report is based on a single case, limiting generalizability; further studies are needed to validate findings.
• Long-term outcomes and survival rates require further investigation to inform clinical practice.

Conclusion:

While initially considered uniformly lethal, some patients may survive beyond the first two years of life, indicating a need for ongoing research into the condition to improve patient outcomes.