Musculoskeletal abnormalities in congenital diaphragmatic hernia survivors: Patterns and risk factors: Report of a Japanese multicenter follow-up survey

Background: The aim of this study was to investigate the natural history and associated predictors of musculoskeletal deformities in congenital diaphragmatic hernia (CDH) survivors. Methods: A multicenter retrospective survey was conducted among CDH patients between January 2006 and December 2010 in Japan, and a follow-up survey was performed between September 2013 and October 2013. One hundred and eighty-two (79.8%) of the 228 patients were alive. An orthopedic survey of 159 survivors without severe coexisting congenital anomalies was subsequently carried out, and the rates of pectus excavatum (PE), scoliosis and chest asymmetry were evaluated. Results: Scoliosis, PE and chest asymmetry were found in 20 (12.6%), 19 (11.9%) and 12 (7.5%) patients, respectively. In total, 44 patients (27.7%) developed orthopedic abnormalities. Reduction in the oxygenation index within 24 h after birth (P = 0.044), large diaphragmatic defects (P = 0.047) and patch repair (P = 0.014) were predictive for scoliosis. In addition, Apgar score at 5 min was significantly lower in the patients who developed PE (P = 0.034); and stomach herniation (P = 0.004) and liver herniation (P = 0.013) at prenatal diagnosis and large diaphragmatic defects (P = 0.036) were predictive of chest asymmetry. Conclusions: Approximately one-quarter of the survivors developed musculoskeletal abnormalities in the present survey of CDH patients. These data suggest that each musculoskeletal abnormality has its own specific predictors.