Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia

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In 1935, Thomas Fairbank described a patient with irregular ossification of multiple epiphyses. In 1947, he coined the term dysplasia epiphysealis multiplex and discussed its clinical and radiologic features. [1]  Currently, this condition is commonly referred to as multiple epiphyseal dysplasia (MED).

Among the osteochondrodysplasias, MED occurs most commonly. Studies suggest a prevalence of 9-16 cases per 100,000 births. [2, 3]  MED is characterized by involvement of multiple epiphyses with variable phenotypes. [4] In general, MED is inherited in an autosomal dominant pattern; however, other inheritance forms are also seen. [5, 6, 7]

The goals of medical management of MED are to alleviate pain and to halt joint destruction and the development of early osteoarthritis. The goals of surgical therapy are pain relief, correction of angular deformities, and correction of joint contractures. Indications for surgical intervention to manage MED are pain, subluxation of the joint, and angular deformity. No specific guidelines about contraindications are available; contraindications to surgical intervention to treat MED are the same as those for any other planned surgical procedure.

Cartilage oligomeric matrix protein (COMP) and matrilin-3 (MATN3) are thought to bridge extracellular matrix proteins. Collagen IX is important for the adhesive properties of cartilage. Altered enchondral ossification may be associated with changes in the articular cartilage. The resultant articular cartilage is deficient in underlying osseous support and fails to withstand normal cyclical loading. [8, 9]

Studies have revealed the following genotypic-phenotypic correlations:

The exact etiology of MED remains unclear. No potential causes or risk factors for MED are known. Genetic alterations result in abnormal enchondral ossification.

MED is a heterogeneous disorder. It can be caused by mutations in several genes, including the following [13, 14] :

Most autosomal dominant forms of MED are attributed to a COMP mutation. [15] COMP is located on chromosome 19. Only a few cases of autosomal dominant MED are characterized by mutations in MATN3,COL9A1, COL9A2, or COL9A3.

All recessive forms of MED are related to mutations in SLC26A2 and involve the peripheral joints. [15]

Few investigators have described the outcomes of surgical treatment for MED. Lim et al reported on total hip replacement with the use of modular cementless prostheses. [16] At a mean follow-up of 4.8 years, no hip required revision. Harris hip scores seemed to be substantially improved.

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Ashish S Ranade, MBBS, MS, MRCS Consultant Orthopaedic Surgeon, Columbia Asia Hospital and Deenanath Mangeshkar Hospital, India

Ashish S Ranade, MBBS, MS, MRCS is a member of the following medical societies: Paediatric Orthopaedic Society of India

Disclosure: Nothing to disclose.

James J McCarthy, MD, FAAOS, FAAP Director, Division of Orthopedic Surgery, Cincinnati Children’s Hospital; Professor, Department of Orthopedic Surgery, University of Cincinnati College of Medicine

James J McCarthy, MD, FAAOS, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Orthopaedic Association, Pennsylvania Medical Society, Philadelphia County Medical Society, Pennsylvania Orthopaedic Society, Pediatric Orthopaedic Society of North America, Orthopaedics Overseas, Limb Lengthening and Reconstruction Society, Alpha Omega Alpha, American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Orthopaedic Surgeons

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Orthopediatrics, Phillips Healthcare, POSNA<br/>Serve(d) as a speaker or a member of a speakers bureau for: Synthes<br/>Received research grant from: University of Cincinnati<br/>Received royalty from Lippincott Williams and WIcins for editing textbook; Received none from POSNA for board membership; Received none from LLRS for board membership; Received consulting fee from Synthes for none.

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.

Jeffrey D Thomson, MD Professor of Orthopedic Surgery, University of Connecticut School of Medicine; Director of Orthopedic Surgery, Connecticut Children’s Medical Center; Vice President of Medical Staff, Connecticut Children’s Medical Center

Jeffrey D Thomson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Pediatric Orthopaedic Society of North America, Scoliosis Research Society

Disclosure: Nothing to disclose.

Mininder S Kocher, MD, MPH Associate Professor of Orthopedic Surgery, Harvard Medical School/Harvard School of Public Health; Associate Director, Division of Sports Medicine, Department of Orthopedic Surgery, Children’s Hospital Boston

Mininder S Kocher, MD, MPH is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Sports Medicine, Pediatric Orthopaedic Society of North America, American Association for the History of Medicine, American Orthopaedic Society for Sports Medicine, Massachusetts Medical Society

Disclosure: Received consulting fee from Smith & Nephew Endoscopy for consulting; Received consulting fee from EBI Biomet for consulting; Received consulting fee from OrthoPediatrics for consulting; Received stock from Pivot Medical for consulting; Received consulting fee from pediped for consulting; Received royalty from WB Saunders for none; Received stock from Fixes-4-Kids for consulting.

Multiple Epiphyseal Dysplasia

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