P258: Achondroplasia and subdural bleeding: An under-recognized clinical finding and potentially erroneous suspicion of inflicted injury

Achondroplasia (ACH) is a skeletal dysplasia condition and represents the most common genetic cause of disproportionate short stature. It results from heterozygous, gain-of-function pathogenic variants in FGFR3 (Fibroblast Growth Factor Receptor 3) In approximately 80% of cases, these variants occur de novo. Although historically considered primarily a skeletal disorder, ACH is in fact associated with a range of extra-skeletal manifestations. In recent years, increasing attention has been directed toward the chronic and extra-skeletal sequelae of ACH, including potential neurological complications with a primary focus on foramen magnum stenosis, hydrocephalus and more recently neurodevelopmental differences.