TY - CHAP M1 - Book, Section TI - Osteogenesis Imperfecta A1 - Appachi, Elumalai A2 - Usatine, Richard P. A2 - Sabella, Camille A2 - Smith, Mindy Ann A2 - Mayeaux, E.J. A2 - Chumley, Heidi S. A2 - Appachi, Elumalai Y1 - 2015 N1 - T2 - The Color Atlas of Pediatrics AB - A newborn infant is being evaluated by the pediatrician in the hospital. On physical exam, the infant is noted to have blue sclerae and deformities in the legs (Figure 225-1). X-rays of the long bones of the legs reveal multiple fractures (Figure 225-2). Prenatal ultrasound screening in the second trimester showed bowing of long bones, fractures, and shortened limbs, suspicious for osteogenesis imperfecta (OI). The infant is treated with supportive care and a referral to genetics and orthopedics is made. The diagnosis of OI is formally established by identifying mutations in type 1 collagen. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1114880827 ER -