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Pena-Shokeir syndrome's first case report from Syria
Mohammad Badr Almoshantaf1, Hidar Alibrahim2, Haidara Bohsas2
1Department of Neurosurgery Ibn Al-Nafess Hospital Damascus Syria.
Clinical Case Reports
|November 30, 2022
Summary
Pena-Shokeir syndrome, a rare fatal congenital condition, is presented in the first Syrian case. Early diagnosis is crucial for providing realistic options for mothers and newborns.
Area of Science:
- Medical Genetics
- Neonatology
- Pediatric Pathology
Background:
- Pena-Shokeir syndrome is a rare, severe congenital disorder.
- It is characterized by intrauterine growth restriction, joint contractures, and facial anomalies.
- The condition is often fatal, with limited survival rates.
Observation:
- This report details the first documented case of Pena-Shokeir syndrome in Syria.
- The diagnosis was made in a neonate presenting with characteristic clinical features.
- The case highlights the challenges in diagnosing rare congenital conditions in diverse geographical settings.
Findings:
- The Syrian case of Pena-Shokeir syndrome aligns with previously described clinical and pathological findings.
- Genetic analysis, where feasible, is essential for confirming the diagnosis and understanding the etiology.
- This case underscores the importance of recognizing Pena-Shokeir syndrome in neonates.
Implications:
- Early and accurate diagnosis of Pena-Shokeir syndrome is critical for appropriate management and counseling.
- Prenatal diagnosis can offer families more informed choices regarding pregnancy management.
- Raising awareness of Pena-Shokeir syndrome in neonatology and obstetrics is vital for improving outcomes.
