This procedure is safe and offers a persistent correction with a short segment fusion. Surgery should be performed as early as possible to avert severe local deformities and prevent secondary structural deformities in order to avoid extensive fusions.

Overexpression of the C-type natriuretic peptide, encoded by the NPPC gene in 2q37.1, was recently reported in a patient presenting an overgrowth phenotype and a balanced t(2;7)(q37.1;q21.3) translocation. We present clinical, cytogenetic, and molecular data from two additional patients carrying balanced translocations involving the same 2q37.1 chromosome band and chromosomes 8 and 13, respectively. The clinical phenotype of these patients is very similar to the first patient described. In addition to the overgrowth syndrome, there is evidence of generalized cartilage dysplasia. In these two new cases, we found overexpression of NPPC, confirming that this unusual overgrowth phenotype in humans is due to the overexpression of this gene. The involvement of three different chromosomes and a cluster of breakpoints around the NPPC gene suggests that the overexpression of this gene in translocation patients could be due to its separation from a negative regulatory element located on chromosome 2, which would constitute a previously undescribed mutational mechanism.

PJK is a frequent complication in thoracic AIS, occurring 16%, but remains often asymptomatic (less than 3% of revisions in the entire cohort). An interesting finding is that patients with high pelvic incidence and consequently large LL and TK were more at risk of PJK. As demonstrated in ASD, one of the causes of PJK might be postoperative posterior imbalance that can be due to increased LL, insufficient TK or inflection point shift during surgery. These slides can be retrieved under Electronic Supplementary Material.