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      Ischiopubic and odontoid synchondrosis in a boy with progressive pseudorheumatoid chondrodysplasia

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          Abstract

          Purpose

          To present the case of a 14-year-old boy with clinical and radiographic features of pseudorheumatoid chondrodyspalsia with additional, potentially serious, cervical malformations.

          Methods

          Detailed clinical and radiological examinations were undertaken with emphasis on the usefulness of 3D-CT scanning.

          Results

          There was synchondrosis between the odontoid and the body of the axis and the cephalad part of the odontoid was detached. Bilateral ischiopubic ossification defects and ischiopubic and odontoid synchondroses were additional abnormalities. 3D-CT scan showed an orthotopic type of os odontoideum associated with an occult axial fracture.

          Conclusion

          Children who are younger than seven years of age are predisposed to develop odontoid fracture. The latter occur because of the presence of physiological odontoid synchondrosis, but fractures can result from trivial injuries as well as from high-energy trauma. The persistence of an infantile odontoid, with a large pre-adulthood head in children with skeletal dysplasias, is a major risk factor for sudden death or significant morbidity. Comprehensive orthopaedic management must follow early identification of these malformations.

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          Most cited references 22

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          Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

          Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation. Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest they have non-redundant roles. Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230). PPD is an autosomal recessive disorder that may be initially misdiagnosed as juvenile rheumatoid arthritis. Its population incidence has been estimated at 1 per million in the United Kingdom, but it is likely to be higher in the Middle East and Gulf States. Affected individuals are asymptomatic in early childhood. Signs and symptoms of disease typically develop between three and eight years of age. Clinically and radiographically, patients experience continued cartilage loss and destructive bone changes as they age, in several instances necessitating joint replacement surgery by the third decade of life. Extraskeletal manifestations have not been reported in PPD. Cartilage appears to be the primary affected tissue, and in one patient, a biopsy of the iliac crest revealed abnormal nests of chondrocytes and loss of normal cell columnar organization in growth zones. We have identified nine different WISP3 mutations in unrelated, affected individuals, indicating that the gene is essential for normal post-natal skeletal growth and cartilage homeostasis.
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            Os Odontoideum.

            A review of the cases of thirty-five patients with os odontoideum, the largest series reported to date, supports the concept that trauma is the etiology of the abnormality. Most of the patients had roentgenographic instability of the affected spinal segment, and were treated with spine fusion. Eleven patients had lesions attributable to injuries received before they were four years old, although surgical treatment usually was delayed for one to eight years. Nine patients had documented roentgenographic evidence of a normal odontoid process prior to the development of the os odontoideum. Only one-third of the patients had any signs or symptoms indicative of neural deficits, although most patients had cervical pain. Surgical treatment alleviated the pain and instability.
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              Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance.

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                Author and article information

                Journal
                Pediatr Rheumatol Online J
                Pediatric Rheumatology Online Journal
                BioMed Central (London )
                1546-0096
                2007
                27 September 2007
                : 5
                : 19
                Affiliations
                [1 ]Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4 th Medical Department, Hanusch Hospital, Vienna, Austria
                [2 ]Ibn Zohr Institute of Radiology-Imaging Research Department, Tunis, Tunisia
                [3 ]Department of Paediatric Orthopaedic Surgery, Children Hospital, Tunis, Tunisia
                [4 ]Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria
                Article
                1546-0096-5-19
                10.1186/1546-0096-5-19
                2045086
                17900350
                Copyright © 2007 Al Kaissi et al; licensee BioMed Central Ltd.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                Categories
                Case Report

                Pediatrics

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