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Osteogenesis Imperfecta in the Neonate

Hackley, Lorraine RNC, MSN, NNP; Merritt, Linda RNC, MSN1

Section Editor(s): MERRITT, LINDA RNC, MSN

doi: 10.1097/01.ANC.0000311013.71510.41
Focus on the Physical

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.

1Collin County Community College/Medical Center of McKinney, McKinney, Texas.

Address correspondence to Linda Merritt, Staff Nurse Medical Center of McKinney, Special Care Nurery 4500 Medical Center Drive, McKinney, TX 75069;

The authors have no significant ties, financial or otherwise, to any company that might have an interest in the publication of this educational activity.

© 2008 National Association of Neonatal Nurses