Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings

Skeletal dysplasias are rare disorders representing approximately 5% of all congenital anomalies. They are highly heterogeneous and clinical findings are often non-specific, so accurate diagnosis often relies on expert interpretation of radiological findings. Until the last few years treatments have been limited and focused primarily on surgical interventions to manage life-threatening skeletal and neurological complications. However, recently the development of therapeutics, such as vosoritide and infigratinib for children with achondroplasia, and asfotase alpha for hypophosphatasia, has highlighted the need to provide an accurate and timely diagnosis to inform early intervention.