Childhood Ayme-Gripp syndrome: A case report

Ayme-Gripp syndrome is a rare genetic disorder caused by mutations in the musculoaponeurotic fibrosarcoma gene. This report presents a detailed case of a 12-year-old boy with Ayme-Gripp syndrome who was found to carry a pathogenic c.176C>A (p.Pro59His) variant in the musculoaponeurotic fibrosarcoma gene. His clinical phenotype included the most severe short stature documented to date as well as previously underreported features such as epileptic seizures, in addition to the classic findings of hearing loss, intellectual disability, and craniofacial/skeletal malformations. The patient's epilepsy was effectively managed with sodium valproate, alongside comprehensive supportive care. This case highlights the broad phenotypic variability associated with musculoaponeurotic fibrosarcoma gene mutations and underscores the importance of deep phenotyping in expanding our understanding of ultra-rare disorders such as Ayme-Gripp syndrome.