Spondyloepiphyseal dysplasia tarda with progressive arthropathy is a form of inherited skeletal dysplasia involving the axial skeleton along with swelling and deformities of the peripheral joints that mimics juvenile rheumatoid arthritis. We report a case of a 14-year-old school boy who presented with dwarfism, spine deformity, ocular anomaly and peripheral arthropathy with characteristic radiological changes in the vertebrae and multiple other joints.
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http://dx.doi.org/10.1136/bcr-2013-202938 | DOI Listing |
Nucl Med Rev Cent East Eur
December 2024
Department of Nuclear Medicine, School of Medicine, Hasheminejad Hospital, Iran University of Medical Sciences, Tehran, Iran.
Background: Bone metastases are complications of many cancers, including colon cancer. Whole body bone scan is commonly used to detect bone metastases in these patients. Bone scan findings are sensitive for detecting metastases but with less experience and especially without the use of single photon emission computed tomography/computed tomography (SPECT/CT) images, they are less specific.
View Article and Find Full Text PDFBMC Musculoskelet Disord
December 2024
Department of Orthopedic Surgery, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.
Background: Achondroplasia, the most common form of rhizomelic dwarfism, occurs in approximately 1 in 25,000 individuals. Clinical features include attenuated growth, rhizomelic limb shortening, and craniofacial abnormalities. Limb-lengthening surgery is widely employed to improve quality of life.
View Article and Find Full Text PDFAm J Orthod Dentofacial Orthop
January 2025
School of Dentistry, University of Michigan, Ann Arbor, Mich.
Introduction: Accuracy and user experience of dental diagnosis for a patient with cleidocranial dysplasia (CCD) using immersive virtual reality (VR) and cone-beam computed tomography multiplanar reconstruction methods were evaluated.
Methods: Dental students (n = 40) were randomly assigned to VR or MP groups. VR participants manipulated and visualized the rendered 3-dimensional model using VR hardware and software.
Orphanet J Rare Dis
December 2024
Dipartimento di Elettronica, Informazione e Bioingegneria, Politecnico di Milano, Piazza Leonardo da Vinci, 20133, Milan, Italy.
Introduction: Osteogenesis Imperfecta (OI) is characterised by brittle bones, severe skeletal deformities, low sleep quality, and restricted breathing. We aimed to distinguish how disease and obesity affect these results.
Methods: According to BMI, we considered four groups of peer adults (median age: 35.
Medicine (Baltimore)
December 2024
Xuzhou Clinical College of Xuzhou Medical University, Xuzhou Central Hospital, Xuzhou, China.
Rationale: The aim of this study is to investigate the de novo mutation and clinical features of latent transforming growth factor-beta-binding protein 3 (LTBP3) gene-associated geleophysic dysplasia 3, and possible mechanisms of action.
Patient Concerns: A nonconsanguineous couple was recruited for this study due to the presence of intrauterine growth restriction. The pregnant woman and her elder daughter presented with skeletal abnormalities with diabetes.
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