High Prevalence of Cervical Deformity and Instability Requires Surveillance in Loeys-Dietz Syndrome

• DOI: 10.2106/jbjs.n.00680
• Publication Date: 2015-03-04T18:52:10Z
• Authors: Sara K. Fuhrhop; Mark J. McElroy; Harry C. Dietz; Gretchen L. MacCa...; Paul D. Sponseller
• Keywords: Kyphosis; Atlantoaxial instability; Pseudarthrosis

Background: Loeys-Dietz syndrome is a connective tissue disorder characterized by vascular, craniofacial, and musculoskeletal malformation. Our goal was to report the manifestations, surgical treatment, complications in cervical spine patients with syndrome. Methods: We reviewed clinical imaging data of eighty who were seen at our institution from January 2005 through 2014. Their mean age presentation 17.3 years (range, three months seventy-five years). tested associations use Fisher exact test (type TGF-βR [transforming growth factor-beta receptor] mutation abnormalities) Student t (age type mutation) (significance, p = 0.05). Results: Vertebral anomalies instability common; we found no significant association TGF-βR-type abnormalities or presentation. Twenty-eight had atlas defects (anterior and/or posterior arch hypoplasia), fifty-three axis malformations (elongation, apex-anterior dens angulation, spondylolysis), twelve focal kyphosis. Ten hypoplastic subaxial vertebrae, leading kyphosis (eight) (nine). Eight atlantoaxial instability. Of thirteen instability, nine treated surgically: fusion (eight patients) halo application (one) (mean age, four years; range, Postoperative (seven pseudarthrosis, failure fixation, junctional development occipital-cervical Conclusions: Cervical midline (most often C1-C3) are common Patients have high prevalence particularly pattern C2-C3 associated C3 vertebral body hypoplasia requiring surgery typically present early childhood. Level Evidence: Therapeutic IV. See Instructions for Authors complete description levels evidence.