Spondyloepiphyseal Dysplasia: Multimedia

References

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2. Spranger JW, Langer LO Jr. Spondyloepiphyseal dysplasia congenita. Radiology. Feb 1970;94(2):313-22. [Medline].

3. Fraser GR, Friedmann AI, Maroteaux P. Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps. Arch Dis Child. Aug 1969;44(236):490-8. [Medline].

4. Jacobsen AW. Hereditary osteochondrodystrophia deformans. A family with twenty members affected in five generations. JAMA. 1939;113:121.

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21. Toledo SP, Mourao PA, Lamego C, et al. Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis. Am J Med Genet. 1978;2(4):385-95. [Medline].

22. Zhou W, Zhou S, Huang S, Zhou J, Xu X. [Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda.]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. Feb 2008;25(1):15-8. [Medline].

23. Whyte MP, Gottesman GS, Eddy MC, McAlister WH. X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine (Baltimore). Jan 1999;78(1):9-25. [Medline].

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27. 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. Dec 1981;63(9):1412-25. [Medline].

28. Gordon JE, Heidenreich FP, Carpenter CJ, Kelly-Hahn J, Schoenecker PL. Comprehensive treatment of late-onset tibia vara. J Bone Joint Surg Am. Jul 2005;87(7):1561-70. [Medline].

Further Reading

Keywords

spondyloepiphyseal dysplasia congenita, SED congenita, SEDC, Spranger-Wiedemann, spondyloepiphyseal dysplasia tarda, SED tarda, SED tardive, X-linked SED, spondyloepiphyseal dysplasia late, SEDL, SED Maroteaux type, SED tarda Toledo, SED with brachydactyly, SED tarda Namaqualand type, NSED, pseudo-Morquio disease, pseudoachondroplasia SED, short stature, dwarfism, skeletal dysplasia, myopia, near-sighted, retinal detachment, detached retina, deafness, deaf, scoliosis, kyphosis, lordosis

Contributor Information and Disclosures

Author

Shital Parikh, MD, Assistant Professor, Department of Pediatric Orthopaedic 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, and Orthopaedic Research Society
Disclosure: Nothing to disclose.

Coauthor(s)

Alvin H Crawford, MD, FACS, Professor of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, 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 and Scoliosis Research Society
Disclosure: Nothing to disclose.

Preeti Batra, MBBS, MD, Staff Physician, Department of Radiology, VS Hospital, India
Disclosure: Nothing to disclose.

Medical Editor

Charles T Mehlman, DO, MPH, Director, Musculoskeletal Outcomes Research, Associate Professor, Division of Pediatric Orthopedic Surgery, 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, 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, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
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Managing Editor

George H Thompson, MD, Director, Pediatric Orthopedics, Rainbow Babies and Children's Hospital
George H Thompson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dennis P Grogan, MD, Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.