Spondyloepiphyseal Dysplasia Differential Diagnoses

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15. Nakamura K, Miyoshi K, Haga N, Kurokawa T. Risk factors of myelopathy at the atlantoaxial level in spondyloepiphyseal dysplasia congenita. Arch Orthop Trauma Surg. 1998. 117(8):468-70. [Medline].

16. Veeravagu A, Lad SP, Camara-Quintana JQ, Jiang B, Shuer L. Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. World Neurosurg. 2013 Sep-Oct. 80 (3-4):437.e1-8. [Medline].

17. Terhal PA, Nievelstein RJ, Verver EJ, et al. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 2015 Mar. 167A (3):461-75. [Medline].

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31. Veeravagu A, Lad SP, Camara-Quintana JQ, Jiang B, Shuer L. Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. World Neurosurg. 2013 Sep-Oct. 80(3-4):437.e1-8. [Medline].

32. Bethem D, Winter RB, Lutter L, et al. Spinal disorders of dwarfism. Review of the literature and report of eighty cases. J Bone Joint Surg Am. 1981 Dec. 63(9):1412-25. [Medline].

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35. Li S, Zhou H, Qin H, Guo H, Bai Y. A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita. Joint Bone Spine. 2014 Jan. 81 (1):86-9. [Medline].

Shital Parikh, MD Associate Professor, Department of Pediatric Orthopedic Surgery, Cincinnati Children's Hospital Medical Center

Shital Parikh, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, Orthopaedic Research Society

Disclosure: Nothing to disclose.

Preeti Batra, MD, MBBS Staff Physician, Department of Radiology, VS Hospital, India

Disclosure: Nothing to disclose.

Alvin H Crawford, MD, FACS Professor Emeritus of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Founding Division of Pediatric Orthopedic Surgery, Department of Orthopedic Surgery, Cincinnati Children's Hospital Medical Center

Alvin H Crawford, MD, FACS is a member of the following medical societies: Ohio State Medical Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

George H Thompson, MD Director of Pediatric Orthopedic Surgery, Rainbow Babies and Children’s Hospital, University Hospitals Case Medical Center, and MetroHealth Medical Center; Professor of Orthopedic Surgery and Pediatrics, Case Western Reserve University School of Medicine

George H Thompson, MD is a member of the following medical societies: American Orthopaedic Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons

Disclosure: Received none from OrthoPediatrics for consulting; Received salary from Journal of Pediatric Orthopaedics for management position; Received none from SpineForm for consulting; Received none from SICOT for board membership.

Dennis P Grogan, MD Clinical Professor (Retired), Department of Orthopedic Surgery, University of South Florida College of Medicine; Orthopedic Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

Dennis P Grogan, MD is a member of the following medical societies: American Medical Association, American Orthopaedic Association, Scoliosis Research Society, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association

Disclosure: Nothing to disclose.

Charles T Mehlman, DO, MPH Professor of Pediatrics and Pediatric Orthopedic Surgery, Division of Pediatric Orthopedic Surgery, Director, Musculoskeletal Outcomes Research, Cincinnati Children's Hospital Medical Center

Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association

Disclosure: Nothing to disclose.

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