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

Year: 2025

Type: article

Abstract: 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.

Source: Middle East Journal of Medical Case Reports

DOI: 10.36348/merjmcr.2025.v05i02.002

Authors: Veli Karabuga, Hamza Yazgan, Bülent Gürler, Mahamadou Fode Diarra

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4409463446

FWCI:

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