Multiple epiphyseal dysplasia (MED) is a rare autosomal dominant skeletal dysplasia caused by abnormalities in the gene(s) coding for type IX collagen and cartilage oligomeric matrix protein. Clinically, the disease is characterized by abnormalities in the epiphyseal cartilage of multiple joints. Orthopedic manifestations include pain and restricted mobility. The disorder, which has a predilection for the femoral head and acetabulum, usually presents from the third to the fourth decade with secondary hip osteoarthritis. We report on 7 subjects affected by multiple epiphyseal dysplasia, which presented hip osteoarthritis in their third decade of life and underwent staged bilateral total hip arthroplasty. All patients experienced pain relief and improved quality of life after surgical treatment.
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http://dx.doi.org/10.1016/j.arth.2008.06.023 | DOI Listing |
Congenit Anom (Kyoto)
January 2025
Department of Histology and Embryology, Medical School, Faculty of Health Sciences, Aristotle University of Thessaloniki, Greece.
The current case report presents the postmortem examination findings of a 17-week-old female fetus displaying thanatophoric dysplasia type 1 (TD-1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X-ray examination revealed significant abnormalities, including skeletal malformations with prominent TD-1 femur curvature. Microscopical evaluation indicated inadequate histological growth for the gestational age, with specific organ immaturity noted in multiple hematoxylin and eosin sections from internal organs, bone from epiphyses and diaphyses levels.
View Article and Find Full Text PDFCureus
December 2024
Trauma and Orthopaedics, Northampton General Hospital, Northampton, GBR.
Although mixing and matching components is a common, safe, and well-documented practice in hip revision surgery, our extensive search indicates that it has not been previously reported for shoulder arthroplasty. This case report presents the use of mixed implants in shoulder revision surgery to reduce morbidity and address flaws in the initial implant design. We describe a case of a patient with multiple epiphyseal dysplasia who was treated for osteoarthritis in his left shoulder with an anatomic shoulder replacement in 2014.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Department of Pediatrics, Children's Nebraska and University of Nebraska Medical Center, Omaha, NE 68104, USA.
Pituitary gigantism (PG) is a rare endocrine disorder that may present with multiple pituitary hormone abnormalities in pediatric patients. A hallmark presentation is accelerated growth due to growth hormone (GH) excess. Current treatment modalities include surgery, radiation, and medical therapy.
View Article and Find Full Text PDFLeg Med (Tokyo)
December 2024
Department of Forensic Pathology, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, Sichuan 610041, China. Electronic address:
This case presents a unique age estimation involving Chinese Tibetan twins, where one of them has been arrested for alleged rape. His parents claimed he was about 13 years old without providing any official age documentation. Since age is important in criminal proceedings in China, bone age estimation was conducted to determine the chronological age of the twins.
View Article and Find Full Text PDFSkeletal Radiol
December 2024
Department of Clinical Genomics, Mayo Clinic, 13400 East Shea Blvd, Scottsdale, AZ, 85259, USA.
COL9A1 encodes the alpha-1 chain of type IX collagen heterotrimer, which is a vital component of collagen fibrils in hyaline cartilage. There are preliminary lines of evidence suggesting that COL9A1 mutations may be associated with autosomal dominant multiple epiphyseal dysplasia (MED), a disorder affecting the epiphysis of long bones. With only 2 reported cases (both from the same family) of MED in autosomal dominant COL9A1-related disorders (MIM 614135) in the clinical scientific literature hitherto, the phenotype is poorly understood at present.
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