"Depending on the type, the inheritance of the disorder can be autosomal dominant (>95%), autosomal recessive ("
"Osteogenesis imperfecta is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen. Mutations in the COL1A1 and COL1A2 genes, which encode the α1 and α2 polypeptide chains 7, are responsible for >90% of all cases."
"suspected physical abuse (previously termed non-accidental injury or NAI)"
Expected headings
"Associations"
"Prenatal ultrasound"
"The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss. There is extreme variation in clinical symptoms based on genetic basis and subtypes. Osteogenesis imperfecta affects both bone quality and quantity (i.e. bone mass)."
"head, neck and spine"
"different types of rods (surgical nails) are available to address issues related to surgery, bone size, and the prospect for growth; the two major categories of rods are telescopic and non-telescopic 2"