• Eliane Beauregard-Lacroix, Jessica Tardif, Maria Vittoria Camurri, Emmanuelle Lemyre, Soraya Barchi, Stefan Parent, and Philippe M Campeau.
• CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.
• Spine. 2017 Jul 15; 42 (14): E841-E847.

Study DesignRetrospective study of a series of 286 patients with congenital scoliosis (CS).ObjectiveTo describe a large cohort of patients with CS and to propose an algorithm for genetic investigations SUMMARY OF BACKGROUND DATA.: CS is characterized by a spine curvature due to congenital malformations of the vertebrae and is frequently associated to other anomalies. The underlying causes remain unclear in most patients, although we know that genetics plays a role in the development of vertebral defects.MethodsInstitutional review board approval was obtained. We performed a retrospective study by consulting the hospital charts of 286 patients with CS seen at the CHU Sainte-Justine, Montreal, from 2004 to 2015. We compile information on radiological findings, associated malformations, and genetic tests.ResultsResults showed that 67.1% of patients had associated anomalies affecting different systems. Only a minority of patients had a syndromic diagnosis to explain their CS. Nevertheless, array comparative genomic hybridization performed in a minority of patients showed a high detection rate (31.3% had a chromosomal anomaly among 32 tested).ConclusionWe suggest that every patient with CS should have thorough investigations to rule out associated anomalies and that different genetic tests should be offered according to the associated clinical findings.Level Of Evidence4.

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