High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome

The Journal of Bone and Joint Surgery. American Volume
Sara K FuhrhopPaul D Sponseller

Abstract

Loeys-Dietz syndrome is a connective tissue disorder characterized by vascular, craniofacial, and musculoskeletal malformation. Our goal was to report the manifestations, surgical treatment, and complications in the cervical spine in patients with Loeys-Dietz syndrome. We reviewed the clinical and cervical spine imaging data of eighty patients with Loeys-Dietz syndrome who were seen at our institution from January 2005 through January 2014. Their mean age at presentation was 17.3 years (range, three months to seventy-five years). We tested associations with use of the Fisher exact test (type of TGF-βR [transforming growth factor-beta receptor] mutation and cervical abnormalities) and the Student t test (age at presentation and type of TGF-βR mutation) (significance, p = 0.05). Vertebral anomalies and cervical instability were common; we found no significant association of TGF-βR-type with cervical abnormalities or age at presentation. Twenty-eight patients had atlas defects (anterior and/or posterior arch defects or hypoplasia), fifty-three had axis malformations (elongation, apex-anterior dens angulation, or spondylolysis), and twelve had focal kyphosis. Ten patients had hypoplastic subaxial vertebrae, leading to focal kyphosi...Continue Reading

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Citations

Sep 9, 2015·Cardiology in the Young·Benjamin J LandisRobert B Hinton
Oct 26, 2016·International Journal of Cardiology·Charlotte J FriseLucy Mackillop
Feb 24, 2017·Journal of Forensic Sciences·Roger W Byard
Jun 12, 2018·Journal of Pediatric Orthopedics·David J KirbyPaul D Sponseller
Jul 6, 2016·Journal of Pediatric Orthopedics·Jarred A BressnerPaul D Sponseller
Nov 20, 2019·Journal of Pediatric Orthopedics·Nora P O'NeillDaniel J Hedequist
Oct 3, 2020·JBJS Reviews·Majd MarrachePaul D Sponseller
May 22, 2020·Journal of Anatomy·Carlos A PalancarJuan Alberto Sanchis-Gimeno
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Nov 16, 2021·Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews·Conor P LynchMark A Seeley

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