E35 Achondroplasia: delayed diagnosis of a severe, complicated form

Abstract

Abstract Introduction Achondroplasia is the most common form of chondrodysplasia. It manifests by marked rhizomelia, hyperlordosis, brachydactyly and macrocephaly with large, prominent forehead and mid-face hypoplasia. Objective To describe a case of achondroplasia with delayed diagnosis and severe extra-skeletal complications. Result An eight-year-old girl, diagnosed with a bilateral pulmonary ecchinococcosis, was referred for thoracic surgery and a pediatric opinion was required. Physical examination revealed a severe juvenile form of achondroplasia with marked restriction of opening of the mouth and sleep apnea. Pulmonary function tests showed a mild restrictive lung disease. Her skeletal radiological survey showed the classic signs of achondroplasia and a bilateral coxa vara. Thoracic surgery was successfully scheduled with a multidisciplinary team encompassing pediatric surgeons, pediatricians, anesthesiologists and specialized nurses. A dedicated ENT and pulmonology team managed her sleep apnea and respiratory disorder respectively, while pediatric orthopedic team managed the hips. Discussion Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene encoding a transmembrane receptor important among other things in the regulation of linear growth of long bones. Diagnosis is mainly based on the presence of specific clinical and radiological features. Strict adherence to recommendations for perioperative and surgical care are essential. Conclusion The management of achondroplasia is multidisciplinary, and supportive measures are more than crucial; especially in particular situations, such as anesthesia and surgery, that require additional precautions with prudent perioperative management and prolonged postoperative care. Evidently, long term follow-up of the respiratory and musculoskeletal systems is essential. The life expectancy of such patients is close to that of the general population, but patient’s and family’s quality of life is highly impacted. Ethics Parental consent taken before case reporting.