Osteogenesis Imperfecta: Primary Care

Abstract

1. Stephanie R. Starr, MD* 2. Timothy T. Roberts, MD† 3. Philip R. Fischer, MD‡ 1. *Assistant Professor of Pediatrics, Mayo Clinic, Rochester, Minn. 2. †Professor of Pediatrics, Mayo Clinic. 3. ‡Orthopedic Surgery Resident, Albany Medical Center, Albany, NY. After completing this article, readers should be able to: 1. List the types and clinical features of osteogenesis imperfecta (OI), including the potential overlap with abuse. 2. Recognize that deafness is associated with OI. 3. Identify common specific clinical issues and treatments for children who have OI. 4. Discuss additional issues that should be reviewed at health supervision visits for infants, young children, adolescents, and young adults who have OI. Osteogenesis imperfecta (OI), a heritable disorder, occurs in 1 in 10,000 to 15,000 liveborn children and affects people of all ethnicities. An estimated 25,000 to 50,000 individuals in the United States are born with OI. OI is the result of a genetically abnormal bone matrix that does not respond appropriately to mechanical loads, leading to an increase in osteoblast number and osteoclast activity, accelerated bone turnover, and high risk for fractures. It is important for all general pediatricians to be familiar with OI to ensure early diagnosis and optimal health outcomes. Pediatricians should be prepared to coordinate health maintenance and provide a medical home for affected individuals until they can be transitioned successfully to adult clinicians during young adulthood. Sometimes pediatricians must differentiate OI from abuse and other conditions that can mimic OI. The diagnosis of OI may be based on clinical or biochemical analysis, depending on the clinician's degree of suspicion. Evaluation should involve exploring all aspects of family history, medical history (including gestational history), and physical examination. Special laboratory testing, guided by a geneticist, may be required if OI is suspected because not all patients can be diagnosed accurately based only on history, physical examination, and radiographic findings. ### History and Physical Examination In addition to findings …