Article
A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.
Journal of pediatric endocrinology & metabolism : JPEM - 24 Apr 2026
Viudes Cristina Pellicer, Mansó Borrás María, Enrique Madrid Susana, Diago García Berta, Maruenda Jiménez Armando Carlos, Guzmán Tena Paula, Vázquez Álvarez María Leticia, Cañadas Olmo Victoria, Guillamón Dolores Tío, Edo Tena María Amparo, Novella-Maestre Edurne, Marín Reina Purificación
Abstract excerpt
OBJECTIVES: Mosaic variegated aneuploidy syndrome 2 (MVA2) is an uncommon autosomal recessive genetic condition caused by mutations in the CEP57 gene. It is characterized by intrauterine growth restriction, severe short stature, facial dysmorphism, and skeletal abnormalities. Most affected individuals also show congenital cardiac defects and delayed development. To date, only 16 patients have been reported. CASE...
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