Genetic Disorder. Osteogenesis imperfecta
You are contacted by an attorney representing a client who has been charged with child abuse and whom faces loss of her child and 15 years in prison. The record indicated that the child was 4 years old and presented to the ER room with a broken arm and a broken leg. There also appeared to be multiple previous fractures. Now, you examine the child and find blue sclera, a sunken chest wall, severe scoliosis, and you observe a triangular face and prominent forehead. You confirm that there have been multiple previous fractures by evaluating the previous X-rays. This is a genetic disorder.
What is the most likely genetic disease that this presents and why?
What is the molecular basis of this disease?
Before, calling the police what should the initial clinician have done?
