Case Reports   |    
Bilateral Charnley Low-Friction Arthroplasty with Cement in a Patient with PyknodysostosisA Case Report
Farokh Wadia, MRCS(Edin), MS(Orth), DNB(Orth)1; Nikhil Shah, FRCS(Orth), FRCS Glasgow, MS(Orth), DNB(Orth)1; Martyn Porter, MB ChB, FRCS(Ed), FRCS Ed(Orth)1
1 Centre for Hip Surgery, Wrightington Hospital, Hall Lane, Appley Bridge, Wigan WN6 9EP, United Kingdom. E-mail address for F. Wadia: farokh_w@yahoo.co.in
View Disclosures and Other Information
The authors did not receive grants or outside funding in support of their research for or preparation of this manuscript. They did not receive payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity. No commercial entity paid or directed, or agreed to pay or direct, any benefits to any research fund, foundation, educational institution, or other charitable or nonprofit organization with which the authors are affiliated or associated.
Investigation performed at the Centre for Hip Surgery, Wrightington Hospital, Wigan, United Kingdom

The Journal of Bone and Joint Surgery, Incorporated
J Bone Joint Surg Am, 2006 Aug 01;88(8):1846-1848. doi: 10.2106/JBJS.E.00915
5 Recommendations (Recommend) | 3 Comments | Saved by 3 Users Save Case


Pyknodysostosis, also known as Maroteaux-Lamy syndrome, is a rare, autosomal recessive disorder, which was first described by Maroteaux and Lamy1 and Andren et al.2 in 1962. It has been reported to have a prevalence of 1.7 per one million individuals3. The disorder is characterized by short stature with short limbs, large skull vault, small chin and face, high arched palate, retained deciduous teeth, apparent clubbed fingers due to acro-osteolysis, pectus excavatum, and kyphoscoliosis3,4. Fractures of long bones are common with minor trauma, and they usually heal with deformity. End-stage arthritis of the weight-bearing joints may occur. The clinical and radiographic features are similar to those of osteopetrosis and other osteosclerotic conditions. The most distinguishing feature in pyknodysostosis is short stature with short limbs. Radiographically, the osseous sclerosis is more uniform and a medullary canal is still identifiable in the long bones, which is not the case with osteopetrosis.
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?
    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


    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
    Topic Collections
    Related Audio and Videos
    PubMed Articles
    The treatment of glenohumeral joint osteoarthritis. -American Academy of Orthopaedic Surgeons (AAOS) | 9/11/2009
    Results provided by:
    Clinical Trials
    Readers of This Also Read...
    JBJS Jobs
    W. Virginia - Charleston Area Medical Center
    New York - Icahn School of Medicine at Mount Sinai
    District of Columbia (DC) - Children's National Medical Center
    S. Carolina - Department of Orthopaedic Surgery Medical Univerity of South Carlonina