Shtarker Hshtarker H., Dakwar R., Volpin G. scholar.najah.pptVIP

Etiology OI is caused by a genetic defect that affects the body’s production of collagen. Collagen is the major protein of the body’s connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal, or a poorer quality of collagen than normal—leading to weak bones that fracture easily Diagnosis It is often, though not always, possible to diagnose OI based solely on clinical features. Clinical geneticists can also perform biochemical (collagen) or molecular (DNA) tests that can help confirm a diagnosis of OI in some cases The characteristic features of OI vary greatly from person to person, even among people with the same type of OI, and even within the same family, and not all characteristics are evident in each case Differential Diagnosis of OI Marphan’s Syndrome Generalized Familial Joint Laxity Ehlers-Danols Syndrome Larsen’s Syndrome Osteogenesis Imperfecta Rickets especially for Types IV, VI * Shtarker H., Dakwar R., Volpin G. Fassier-Duval telescopic IM system in Children With Osteogenesis Imperfecta Unit of Pediatric Orthopaedics, Department of Orthopaedic Surgery, Western Galilee Hospital, Nahariya Osteogenesis Imperfecta Osteogenesis imperfecta (OI) is one of the best known skeletal dysplasias. It is characterized by clinical anomalies of the Type I collagen containing Tissues that include bone, ligaments, tendons, skin, sclera, and dentin The clinical features include osteoporosis with fractures, joint laxity, grey-blue scleral color, dentinogenesis imperfecta, and premature deafness * * * *