Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy

Abstract

Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can have chest wall deformities including pectus excavatum and pectus carinatum. Cardiorespiratory problems caused by these deformities is the major cause of morbidity and mortality in these patients. Outcomes of surgical correction of pectus excavatum in patients with osteogenesis imperfecta have not been described in the literature. It is important to establish definitive treatment options for these patients to improve their respiratory capacity and reduce mortality. In this case series we present the case of two pre-pubertal pediatric patients with osteogenesis imperfecta type I who underwent surgical correction of pectus excavatum with the Nuss procedure after pamidronate therapy. Both patients had successful correction of the chest wall deformity with significant improvement in their quality of life.

Keywords

• Osteogenesis imperfecta
• Pectus excavatum
• Nuss procedure
• Case series
• Collagen
• Pamidronate