Pena-Shokeir Syndrome: A Case Report of Two Siblings with Type 1. First Case from Africa

Pena-Shokeir Syndrome is a rare genetic disorder, categorized into Type 1 and Type 2. PSS Type 1, characterized by pulmonary hypoplasia, joint contractures, and facial anomalies, typically results in intrauterine or early neonatal death. Approximately 100 cases of PSS Type 1 have been reported. This case report describes two siblings affected by PSS Type 1, born to a mother with a history of 3 miscarriages and with a healthy first child. It underscores both the clinical and genetic aspects of this rare syndrome.