E35 Achondroplasia: delayed diagnosis of a severe, complicated form.

This article focuses on a case of achondroplasia, the most common form of chondrodysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, highlighting delayed diagnosis and severe extra-skeletal complications in an eight-year-old girl. The patient exhibited classic clinical and radiological features of achondroplasia, including skeletal abnormalities and respiratory issues such as sleep apnea and mild restrictive lung disease. Management involved a multidisciplinary team addressing surgical, respiratory, and orthopedic needs, emphasizing the importance of careful perioperative care and long-term follow-up. The report underscores that while life expectancy in achondroplasia patients is near normal, quality of life can be significantly affected, necessitating comprehensive supportive care.