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Scientific Articles   |    
Musculoskeletal Findings of Loeys-Dietz Syndrome
Gurkan Erkula, MD1; Paul D. Sponseller, MD1; Laura C. Paulsen, BS1; Gretchen L. Oswald, MS1; Bart L. Loeys, MD, PhD1; Harry C. Dietz, MD1
1 c/o Elaine P. Henze, BJ, ELS, Medical Editor and Director, Editorial Services, Department of Orthopaedic Surgery, Johns Hopkins Bayview Medical Center, 4940 Eastern Avenue, #A665, Baltimore, MD 21224-2780. E-mail address for P.D. Sponseller: ehenze1@jhmi.edu
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Disclosure: The authors did not receive any outside funding or grants in support of their research for or preparation of this work. Neither they nor a member of their immediate families received payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity.

Investigation performed at the Department of Orthopaedic Surgery and the McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University, Baltimore, Maryland

Copyright ©2010 American Society for Journal of Bone and Joint Surgery, Inc.
J Bone Joint Surg Am, 2010 Aug 04;92(9):1876-1883. doi: 10.2106/JBJS.I.01140
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Abstract

Background: 

Loeys-Dietz syndrome is a recently recognized multisystemic disorder caused by mutations in the genes encoding the transforming growth factor-beta receptor. It is characterized by aggressive aneurysm formation and vascular tortuosity. We report the musculoskeletal demographic, clinical, and imaging findings of this syndrome to aid in its diagnosis and treatment.

Methods: 

We retrospectively analyzed the demographic, clinical, and imaging data of sixty-five patients with Loeys-Dietz syndrome seen at one institution from May 2007 through December 2008.

Results: 

The patients had a mean age of twenty-one years, and thirty-six of the sixty-five patients were less than eighteen years old. Previous diagnoses for these patients included Marfan syndrome (sixteen patients) and Ehlers-Danlos syndrome (two patients). Spinal and foot abnormalities were the most clinically important skeletal findings. Eleven patients had talipes equinovarus, and nineteen patients had cervical anomalies and instability. Thirty patients had scoliosis (mean Cobb angle [and standard deviation], 30° ± 18°). Two patients had spondylolisthesis, and twenty-two of thirty-three who had computed tomography scans had dural ectasia. Thirty-five patients had pectus excavatum, and eight had pectus carinatum. Combined thumb and wrist signs were present in approximately one-fourth of the patients. Acetabular protrusion was present in approximately one-third of the patients and was usually mild. Fourteen patients had previous orthopaedic procedures, including scoliosis surgery, cervical stabilization, clubfoot correction, and hip arthroplasty. Features of Loeys-Dietz syndrome that are important clues to aid in making this diagnosis include bifid broad uvulas, hypertelorism, substantial joint laxity, and translucent skin.

Conclusions: 

Patients with Loeys-Dietz syndrome commonly present to the orthopaedic surgeon with cervical malformations, spinal and foot deformities, and findings in the craniofacial and cutaneous systems.

Level of Evidence: 

Therapeutic Level IV. See Instructions to Authors for a complete description of levels of evidence.

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    Accreditation Statement
    These activities have been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American Academy of Orthopaedic Surgeons and The Journal of Bone and Joint Surgery, Inc. The American Academy of Orthopaedic Surgeons is accredited by the ACCME to provide continuing medical education for physicians.
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