Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies

J Pediatr Orthop. 2019 Sep;39(8):e608-e613. doi: 10.1097/BPO.0000000000001066.


Background: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies.

Methods: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems.

Outcome measures: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system.

Results: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured.

Conclusions: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities.

Level of evidence: Level III.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Comorbidity
  • Congenital Abnormalities / epidemiology
  • Databases, Factual
  • Heart Septal Defects, Atrial / epidemiology*
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Intestinal Atresia / epidemiology*
  • Intestine, Large / abnormalities
  • Kidney / abnormalities
  • Kidney Diseases / congenital
  • Kidney Diseases / epidemiology
  • Klippel-Feil Syndrome / epidemiology
  • Musculoskeletal Abnormalities / epidemiology*
  • Neural Tube Defects / epidemiology*
  • Prevalence
  • Retrospective Studies
  • Scoliosis / epidemiology*
  • Spine / abnormalities*
  • Young Adult

Supplementary concepts

  • Hereditary renal agenesis