title: Visual diagnosis: 6-month-old boy with leg pain.
abstract: Pediatricians play an important role in diagnosing OI as a cause of fracture and may be asked to differentiate this uncommon genetic diagnosis from intentional trauma and other causes of fracture. Early referral to a pediatric endocrinologist, physical therapist, and orthopedic surgeon for the evaluation and treatment of low bone mass and recurrent fractures is important because early medical and surgical intervention may help to minimize the rate of future fractures, even within the first year of life. Continued follow-up with physical and occupational therapy, audiology testing, and regular evaluations of dental health are all essential for children with OI.
authors.affiliation: Department of Pediatrics, Tripler Army Medical Center, Honolulu, HI.
authors.forename: Sebastian K
authors.initials: SK
authors.lastname: Welsh
authors.affiliation: Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, NC.
authors.forename: David F
authors.initials: DF
authors.lastname: Crudo
authors.affiliation: William Sansum Diabetes Center, Santa Barbara, CA.
authors.forename: Jordan E
authors.initials: JE
authors.lastname: Pinsker
mesh_terms: D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics; D011859:Radiography; D013978:Tibial Fractures / Q000000981:diagnostic imaging / Q000209:etiology*
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain