Researchers identify gene responsible for increased risk of infantile fragility
(Boston)--An intrauterine fracture is a rare finding during routine prenatal imaging. This condition can be due to maternal trauma, genetic disorders of the skeleton, as well as other predisposing maternal metabolic and vascular disorders. Genetic disorders that have previously been reported to cause intrauterine fracture include brittle bone disease (osteogenesis imperfecta or OI), osteopetrosis, hypophosphatasia and Ehlers-Danlos syndrome (EDS).
Now for the first time, researchers from Boston University School of Medicine (BUSM) report a new genetic cause, unrelated to OI, for the 23 fractures that occurred in-utero to a mother with EDS hypermobility type.
EDS is a disease that weakens the bones and connective tissues ...
















