ABSTRACT
Osteogenesis imperfecta is a rare heterozygous disorder of collagen production. It is characterized by osteopenia, blue sclera, bone deformities, and progressive hearing loss. Some infants are diagnosed prenatally, whereas others are diagnosed much later in life. This article provides an overview of the disorder and discusses the etiologic origins of the syndrome. A guide for a systematic physical assessment is presented to enhance the early recognition of the disorder. Pictorial examples are provided to enhance the understanding of the wide spectrum of osteogenesis imperfecta. A discussion on treatment and clinical implications, with an emphasis on family support, is provided.