Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.
Adolescent
Arnold-Chiari Malformation
/ diagnosis
Cervical Vertebrae
/ surgery
Child
Child, Preschool
Cohort Studies
Female
Humans
Joint Dislocations
/ diagnosis
Klippel-Feil Syndrome
/ diagnosis
Lumbar Vertebrae
/ surgery
Male
Phenotype
Retrospective Studies
Sacrum
/ surgery
Scoliosis
/ diagnosis
Spinal Fusion
/ methods
Thoracic Vertebrae
/ surgery
Treatment Outcome
Journal
Spine
ISSN: 1528-1159
Titre abrégé: Spine (Phila Pa 1976)
Pays: United States
ID NLM: 7610646
Informations de publication
Date de publication:
01 Jun 2020
01 Jun 2020
Historique:
pubmed:
11
1
2020
medline:
30
9
2020
entrez:
11
1
2020
Statut:
ppublish
Résumé
Retrospective study. To define distinct Klippel-Feil syndrome (KFS) patient phenotypes that are associated with the need for surgical intervention. KFS is characterized by the congenital fusion of cervical vertebrae; however, patients often present with a variety of other spinal and extraspinal anomalies suggesting this syndrome encompasses a heterogeneous patient population. Moreover, it remains unclear how the abnormalities seen in KFS correlate to neurological outcomes and the need for surgical intervention. Principal component (PC) analysis was performed on 132 KFS patients treated at a large pediatric hospital between 1981 and 2018. Thirty-five variables pertaining to patient/disease-related factors were examined. Significant PCs were included as independent variables in multivariable logistic regression models designed to test associations with three primary outcomes: cervical spine surgery, thoracolumbar/sacral spine surgery, and cranial surgery. Fourteen significant PCs accounting for 70% of the variance were identified. Five components, representing four distinct phenotypes, were significantly associated with surgical intervention. The first group consisted of predominantly subaxial cervical spine fusions, thoracic spine abnormalities and was associated with thoracolumbar/sacral spine surgery. The second group was largely represented by axial cervical spine anomalies and had high association with cervical subluxation and cervical spine surgery. A third group, heavily represented by Chiari malformation, was associated with cranial surgery. Lastly, a fourth group was defined by thoracic vertebral anomalies and associations with sacral agenesis and scoliosis. This phenotype was associated with thoracolumbar/sacral spine surgery. This is the first data-driven analysis designed to relate KFS patient phenotypes to surgical intervention and provides important insight that may inform targeted follow-up regimens and surgical decision-making. 3.
Sections du résumé
STUDY DESIGN
METHODS
Retrospective study.
OBJECTIVE
OBJECTIVE
To define distinct Klippel-Feil syndrome (KFS) patient phenotypes that are associated with the need for surgical intervention.
SUMMARY OF BACKGROUND DATA
BACKGROUND
KFS is characterized by the congenital fusion of cervical vertebrae; however, patients often present with a variety of other spinal and extraspinal anomalies suggesting this syndrome encompasses a heterogeneous patient population. Moreover, it remains unclear how the abnormalities seen in KFS correlate to neurological outcomes and the need for surgical intervention.
METHODS
METHODS
Principal component (PC) analysis was performed on 132 KFS patients treated at a large pediatric hospital between 1981 and 2018. Thirty-five variables pertaining to patient/disease-related factors were examined. Significant PCs were included as independent variables in multivariable logistic regression models designed to test associations with three primary outcomes: cervical spine surgery, thoracolumbar/sacral spine surgery, and cranial surgery.
RESULTS
RESULTS
Fourteen significant PCs accounting for 70% of the variance were identified. Five components, representing four distinct phenotypes, were significantly associated with surgical intervention. The first group consisted of predominantly subaxial cervical spine fusions, thoracic spine abnormalities and was associated with thoracolumbar/sacral spine surgery. The second group was largely represented by axial cervical spine anomalies and had high association with cervical subluxation and cervical spine surgery. A third group, heavily represented by Chiari malformation, was associated with cranial surgery. Lastly, a fourth group was defined by thoracic vertebral anomalies and associations with sacral agenesis and scoliosis. This phenotype was associated with thoracolumbar/sacral spine surgery.
CONCLUSION
CONCLUSIONS
This is the first data-driven analysis designed to relate KFS patient phenotypes to surgical intervention and provides important insight that may inform targeted follow-up regimens and surgical decision-making.
LEVEL OF EVIDENCE
METHODS
3.
Identifiants
pubmed: 31923127
doi: 10.1097/BRS.0000000000003368
pii: 00007632-202006010-00006
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
718-726Références
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