Delayed Diagnosis of Osteogenesis Imperfecta: A Differential Diagnosis Guided by Competing Ocular Findings and a Lack of Family History

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with variable clinical manifestations involving many structures and organ systems, leading to characteristic presentations such as low bone mineral density (BMD), vertebral compression fractures, hearing loss, and blue sclerae. Even within the same family, individuals with the same inherited genotype may have differential presentations due to variable expressivity. Early diagnosis of OI in the pediatric population may allow for earlier treatment and interprofessional interventions. This case describes a minority female infant who initially presented with bilateral complexion-associated melanosis (CAM) inclusions in her eyes. The appearance of her inclusions was reminiscent of the blue sclera seen in OI; however, there was no clinical suspicion for OI on birth, developmental, and family histories. Her growth and development were unremarkable at all well-child checks until her three-year well-child check. It was then discovered that she suffered multiple long bone fractures due to low trauma, vertebral compression fractures, and kyphoscoliosis. Due to the occurrence of these fragility fractures, she was given a clinical diagnosis of osteoporosis with pending genetic testing for osteogenesis imperfecta. It was later discovered that there was, in fact, an extensive history of recurrent childhood fractures in the patient’s brother, mother, and numerous maternal relatives. Our case demonstrates the greater need for certified medical interpretation services to obtain clear past medical and family history, especially in the face of language barriers and low health literacy, in conjunction with clinical findings, i.e., CAM, to guide the differential diagnosis and subsequent management appropriately.