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| http://dx.doi.org/10.1297/cpe.24.139 | DOI Listing |
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Spondyloepiphyseal dysplasia congenita (SEDC) is a type of short-limbed dwarfism characterized by platyspondylia, delayed metaphyseal ossification, and irregularly shaped bones. Anesthetic issues in patients with SEDC have reportedly included airway stenosis caused by laryngotracheal hypoplasia, ventilation difficulty due to facial hypoplasia, and intubation difficulty attributed to microgenia. Furthermore, atlantoaxial instability can lead to cervical dislocation due to excessive or violent manipulation of the head and neck.
View Article and Find Full Text PDFOutcomes of Lower Extremity Total Joint Arthroplasty in Patients With Skeletal Dysplasia: A Systematic Review.
Arthroplast Today
October 2024
Department of Orthopaedic Surgery, Center for Musculoskeletal Research, University of Rochester School of Medicine, Rochester, NY.
Background: Patients with genetic skeletal dysplasias often require lower extremity total joint arthroplasty (TJA) due to early joint degeneration; however, little data exists regarding the outcomes of TJA in this population. Our purpose was to review the literature to determine the complication rates, revision rates, implant survivorship, and patient-reported outcomes of total knee arthroplasty and total hip arthroplasty (THA) in those with genetic skeletal dysplasias.
Methods: A systematic literature review of online databases (PubMed and Google Scholar) was conducted.
Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.
Am J Med Genet A
December 2024
Department of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Türkiye.
Aplasia Cutis Congenita with Ectrodactyly Skeletal Syndrome (ACCES, OMIM #619959) is an extremely rare multiple congenital anomalies syndrome caused by haploinsufficiency of the UBA2 gene. This syndrome presents with growth retardation, dysmorphic facial features, neurodevelopmental delay, skeletal problems including ectrodactyly, developmental dysplasia of the hip (DDH) and scoliosis, skin findings such as aplasia cutis, and some internal organ abnormalities. Our 13-year-old female patient and her 38-year-old father had a skeletal dysplasia phenotype with disproportionate short stature, bilateral DDH, mild epiphyseal involvement, scoliosis, and increased lumbar lordosis.
View Article and Find Full Text PDFTotal Hip Arthroplasty with Extra-small Femoral Stems in Extremely Hypoplastic Femurs: A Case-Series Study.
Clin Orthop Surg
August 2024
Department of Orthopedic Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Background: Total hip arthroplasty (THA) in patients with hypoplastic femurs presents a significant challenge to orthopedic surgeons due to the limited space available for implant placement. Therefore, the extra-small femoral stems have been proposed as a solution to this problem, but there are limited data on the outcomes. We aimed to evaluate clinical and radiological outcomes of THA in patients with extremely hypoplastic femurs using the Bencox CM stem (Corentec), an extra-small femoral stem.
View Article and Find Full Text PDFTotal Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report.
Arthroplast Today
June 2024
Department of Orthopaedic Surgery, Montefiore Medical Center, New York City, NY, USA.
Dyggve-Melchior-Clausen (DMC) disease is a rare spondyloepiphyseal autosomal recessive disorder characterized by skeletal dysplasia and intellectual disability. Hip arthritis, often secondary to hip dysplasia, presents at an early age. Current literature suggests that osteotomies do not benefit DMC syndrome-associated hip disease but reports of total hip arthroplasty in these patients are lacking.
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