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Retrospective Analysis of Congenital Scoliosis
- Source :
- Spine. 42:E841-E847
- Publication Year :
- 2017
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2017.
-
Abstract
- Study design 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). Conclusion 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. Level of evidence 4.
- Subjects :
- Adult
Male
Pediatrics
medicine.medical_specialty
Adolescent
MEDLINE
Young Adult
03 medical and health sciences
0302 clinical medicine
Humans
Medicine
Orthopedics and Sports Medicine
Medical diagnosis
Young adult
Child
Retrospective Studies
Chromosome Aberrations
030222 orthopedics
business.industry
Infant
Retrospective cohort study
Evidence-based medicine
Institutional review board
Scoliosis
Child, Preschool
Radiological weapon
Female
Neurology (clinical)
business
Algorithms
030217 neurology & neurosurgery
Comparative genomic hybridization
Subjects
Details
- ISSN :
- 15281159 and 03622436
- Volume :
- 42
- Database :
- OpenAIRE
- Journal :
- Spine
- Accession number :
- edsair.doi.dedup.....abdb9b58a451a7e56a0f86953b71f041