Bent Bone Dysplasia: Diagnosis, Prognosis and Management

https://www.news-medical.net/health/Bent-Bone-Dysplasia-Diagnosis-Prognosis-and-Management.aspx Bent bone dysplasia (BBD) is a perinatal-lethal skeletal disorder caused by pathogenic FGFR2 mutations that disrupt bone formation, leading to bent long bones, osteopenia, and craniosynostosis.