title: Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses.
abstract: METHODS
  Retrospective study of a series of 286 patients with congenital scoliosis (CS).
  
  
  OBJECTIVE
  To 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.
  
  
  METHODS
  Institutional 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.
  
  
  RESULTS
  Results 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).
  
  
  CONCLUSIONS
  We 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.
  
  
  METHODS
  4.
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.|Medical Genetics Service, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Eliane
authors.initials: E
authors.lastname: Beauregard-Lacroix
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.|Medical Genetics Service, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Jessica
authors.initials: J
authors.lastname: Tardif
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.|Medical Genetics Service, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Maria Vittoria
authors.initials: MV
authors.lastname: Camurri
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.|Medical Genetics Service, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Lemyre
authors.affiliation: Department of Orthopedics, CHU Sainte-Justine, Montreal, Quebec, Canada.
authors.forename: Soraya
authors.initials: S
authors.lastname: Barchi
authors.affiliation: Department of Orthopedics, CHU Sainte-Justine, Montreal, Quebec, Canada.
authors.forename: Stefan
authors.initials: S
authors.lastname: Parent
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.|Medical Genetics Service, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Philippe M
authors.initials: PM
authors.lastname: Campeau
mesh_terms: D000293:Adolescent; D000328:Adult; D000465:Algorithms; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D012600:Scoliosis / Q000150:complications* / Q000151:congenital / Q000235:genetics*; D055815:Young Adult