title: Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.
abstract: BACKGROUND
  Spondyloepiphyseal dysplasia (SED) is a rare disease that causes vertebral abnormalities and short-trunk dwarfism. The two forms of SED are congenita and tarda. Each form arises in a genetically distinct fashion and manifests with a different set of complications. SED congenita is more severe, and patients usually display atlantoaxial instability and odontoid hypoplasia. Patients often have various neurologic deficits caused by compression of the spinal cord. The region most affected is the craniovertebral junction (CVJ).
  
  
  METHODS
  A review of the PubMed Database, 1970 to the present, was performed using the search term "spondyloepiphyseal dysplasia" and limited to English-language articles. The search identified 22 articles discussing COL2A1 gene mutations and 10 clinical articles describing patients with SED and associated spinal abnormalities.
  
  
  RESULTS
  Findings from the literature concerning diagnosis, presenting symptoms, and intervention taken are discussed. Additionally, a patient with a diagnosis of SED congenita who presented with bilateral hand numbness is described. The patient underwent a suboccipital craniotomy; posterior decompression of the foramen magnum, the arch of C1, and the lamina of C2; and instrumented fusion of C1-3 to relieve his symptoms.
  
  
  CONCLUSIONS
  In this article, the authors survey the current literature surrounding neurosurgical interventions and present an algorithm for treatment.
authors.affiliation: Department of Neurosurgery, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Anand
authors.initials: A
authors.lastname: Veeravagu
authors.forename: Shivanand P
authors.initials: SP
authors.lastname: Lad
authors.forename: Joaquin Q
authors.initials: JQ
authors.lastname: Camara-Quintana
authors.forename: Bowen
authors.initials: B
authors.lastname: Jiang
authors.forename: Lawrence
authors.initials: L
authors.lastname: Shuer
mesh_terms: D000328:Adult; D003251:Constriction, Pathologic; D003399:Craniotomy; D019299:Decompression, Surgical; D005539:Foramen Magnum / Q000473:pathology / Q000601:surgery; D006801:Humans; D006987:Hypesthesia / Q000209:etiology / Q000628:therapy; D008297:Male; D019635:Neurosurgical Procedures / Q000379:methods*; D010009:Osteochondrodysplasias / Q000151:congenital / Q000175:diagnosis / Q000601:surgery*; D020127:Recovery of Function; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome