Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia.

Summary: Imagine a baby born with bones so fragile they break just from being born. This happened to a little girl who had a broken collarbone on her first day of life. She also had trouble breathing and seizures. Doctors found out she had a very rare disease called Hypophosphatasia (HPP), which means her body doesn't make a special protein needed for strong bones. By doing genetic tests, they figured out exactly what was wrong. The good news? They were able to give her a life-saving medicine to replace the missing protein. This story shows how important it is for doctors to spot this rare disease early so babies can get the help they need right away.