Modified Nuss procedure for severe thoracic deformity associated with paternal uniparental disomy 14: Report of a case

Paternal uniparental disomy 14 (pUPD14) is a rare condition, and only about 30 cases have been reported in Japan. It is characterized by facial abnormalities, a small chest, and ventral abdominal wall defects. An 11-year-old girl with pUPD14 had severe thoracic deformity with a projection on the right side and depression on the left side. On chest X-ray films and CT scans, her chest was narrow, the sternum showed clockwise rotation and depression, and the inferior parts of some ribs protruded anterior to the sternum. We performed a “modified Nuss procedure” to treat the patient's thoracic deformity using a pectus bar. Costal cartilages were resected to increase thoracic mobility, and an anterior incision was made in the sternum down to the marrow to correct her thoracic deformity. Marked improvement was achieved postoperatively.