0
Case Reports   |    
Phenotypic Differences in Multiple Osteochondromas in Monozygotic TwinsA Case Report
Tristan de Mooij, BSc1; Wim Wuyts, PhD2; John Ham, MD, PhD1
1 Department of Orthopaedic Surgery, Onze Lieve Vrouwe Gasthuis, P.O. Box 30.001, 1090 HM Amsterdam. E-mail address for J. Ham: s.j.ham@olvg.nl
2 Department of Medical Genetics, University and University Hospital of Antwerp, Prins Boudewijnlaan 43, 2650 Edegem, Belgium
View Disclosures and Other Information
  • Disclosure statement for author(s): PDF

Investigation performed at the Department of Orthopaedic Surgery, Onze Lieve Vrouwe Gasthuis, Amsterdam



Disclosure: None of the authors received payments or services, either directly or indirectly (i.e., via his or her institution), from a third party in support of any aspect of this work. None of the authors, or their institution(s), have had any financial relationship, in the thirty-six months prior to submission of this work, with any entity in the biomedical arena that could be perceived to influence or have the potential to influence what is written in this work. Also, no author has had any other relationships, or has engaged in any other activities, that could be perceived to influence or have the potential to influence what is written in this work. The complete Disclosures of Potential Conflicts of Interest submitted by authors are always provided with the online version of the article.

Copyright © 2012 by The Journal of Bone and Joint Surgery, Inc.
JBJS Case Connector, 2012 Oct 24;2(4):e60 1-4. doi: 10.2106/JBJS.CC.K.00134
5 Recommendations (Recommend) | 3 Comments | Saved by 3 Users Save Case

Extract

As defined by the World Health Organization (WHO), an osteochondroma is a cartilage-capped osseous outgrowth that is broad-based or stemmed and is made up of cortex and a marrow cavity, which are both continuous with the host bone. The Online Mendelian Inheritance in Man (OMIM) categorizes it under number 133700 and terms it hereditary multiple exostoses (HME), a synonym of the WHO term multiple osteochondroma (MO). MO is a monogenic autosomal-dominant disorder, caused by loss-of-function mutations in either exostosin-1 (EXT1) (8q23-q24)1 or exostosin-2 (EXT2) (11p11-p12)2,3. EXT1 and EXT2 mutations are found in 90% of all cases4. Most often, one side is predominantly affected within a person and family, and sidedness rarely shifts5. Possible modulators are sex, age, and gene environment.
Figures in this Article

    First Page Preview

    View Large
    />
    First page PDF preview
    Sign In to Your Personal ProfileSign In To Access Full Content
    Not a Subscriber?
    Get online access for 30 days for $35
    New to JBJS Case Connector?
    Sign up for a full subscription to both the print and online editions
    Register for a FREE limited account to get full access to all CME activities, to comment on public articles, or to sign up for alerts.
    Register for a FREE limited account to get full access to all CME activities
    Have a subscription to the print edition?
    Current subscribers to The Journal of Bone & Joint Surgery in either the print or quarterly DVD formats receive free online access to JBJS.org.
    Forgot your password?
    Enter your username and email address. We'll send you a reminder to the email address on record.

     
    Forgot your username or need assistance? Please contact customer service at subs@jbjs.org. If your access is provided
    by your institution, please contact you librarian or administrator for username and password information. Institutional
    administrators, to reset your institution's master username or password, please contact subs@jbjs.org

    References

    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.
    CME Activities Associated with This Article
    Submit a Comment
    Please read the other comments before you post yours. Contributors must reveal any conflict of interest.
    Comments are moderated and will appear on the site at the discretion of JBJS editorial staff.

    * = Required Field
    (if multiple authors, separate names by comma)
    Example: John Doe





    Related Content
    The Journal of Bone & Joint Surgery
    JBJS Case Connector
    Tags
    Topic
    Diseases & Conditions
    Signs & Symptoms
    Topic Collections
    Related Audio and Videos
    Clinical Trials
    Readers of This Also Read...
    JBJS Jobs
    12/31/2013
    SC - Department of Orthopaedic Surgery Medical Univerity of South Carlonina
    05/03/2012
    CA - UCLA/OH Department of Orthopaedic Surgery
    04/02/2014
    WY - Memorial Hospital of Sweetwater County
    11/15/2013
    LA - Ochsner Health System