A. MDAGHRI ALAOUI

Coffin-Siris Syndrome Confirmed by an ARID1B Mutation: A Case Report

Asmae Baaziz, Houda El Anguoud & A. MDAGHRI ALAOUI · Asian Journal of Pediatric Research · 2025

Introduction: Coffin-Siris syndrome (CSS) is a rare disorder of the SWI/SNF-related intellectual disability group. It typically presents with global developmental delay, variable intellectual disability, facial dysmorphism, and hypoplasia or absence of the distal phalanges, espec...

Open access Research Article 10.9734/ajpr/2025/v15i10479

Geroderma Osteodysplasticum Associated with Severe Factor V Deficiency in a Pediatric Patient: A Case Report

R. Acharafi, S. Sabbar, A. Baaziz & A. MDAGHRI ALAOUI · Asian Journal of Pediatric Research · 2026

Background: Geroderma osteodysplasticum (GO) is a rare autosomal recessive connective tissue disorder caused by variants in GORAB (golgin, RAB6 interacting), located on chromosome 1q24.2. The phenotype may mimic Ehlers–Danlos syndrome (EDS) or hereditary cutis laxa. Case Presenta...

Open access Research Article 10.9734/ajpr/2026/v16i3529