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Skeletal Embryology and Limb Growth
Published in Manoj Ramachandran, Tom Nunn, Basic Orthopaedic Sciences, 2018
Rick Brown, Anish Sanghrajka, Deborah Eastwood
Multiple epiphyseal dysplasia (MED), a defect in ossification of the epiphysis, occurs in both autosomal and recessive forms. Both types affect the hips and knees, but the recessive type is commonly associated with scoliosis and deformities of the hands and knees. 70% of the dominant forms are due to mutations in the gene coding the cartilage oligometric matrix protein (COMP).
Genetic disorders, skeletal dysplasias and malformations
Published in Ashley W. Blom, David Warwick, Michael R. Whitehouse, Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Fergal Monsell, Martin Gargan, Deborah Eastwood, James Turner, Ryan Katchky
Multiple epiphyseal dysplasia (MED) describes a form of short-limb dysplasia with a broad phenotype. The estimated incidence is approximately 1:10 000, but this is probably an underestimate, as the milder forms may elude formal diagnosis. The clinical presentation ranges from asymptomatic patients with subtle anatomical abnormalities to severe pain and joint stiffness requiring arthroplasty in adolescence or as a young adult.
Genetic Disorders, Dysplasias and Malformations
Published in Louis Solomon, David Warwick, Selvadurai Nayagam, Apley and Solomon's Concise System of Orthopaedics and Trauma, 2014
Louis Solomon, David Warwick, Selvadurai Nayagam
Multiple epiphyseal dysplasia (MED) varies in severity from a trouble-free disorder with mild anatomical abnormalities to a severe crippling condition. There is widespread involvement of the epiphyses but the vertebrae are not at all, or only mildly, affected.
Patient-specific instrumentation makes sense in total knee arthroplasty
Published in Expert Review of Medical Devices, 2022
Vicente J. León-Muñoz, Mirian López-López, Fernando Santonja-Medina
Different authors have published the usefulness of PSI for TKA surgery in complex cases: Takahashi et al. [55] after correcting a severe extraarticular tibial deformity by opening wedge osteotomy with gradual adjustments using an external fixation system. Wang et al. [56] in symptomatic end-stage knee osteoarthritis secondary to Klippel-Trénaunay syndrome, using PSI to effectively avoid the interference of malformed intramedullary vessels with intramedullary positioning instrumentation. Yang et al. [57] published their experience in twenty complexes TKAs performed on 18 patients (11 were performed in patients with existing hardware, three in patients with dwarfism, three in patients with post-traumatic deformities, two in a patient with multiple epiphyseal dysplasia, and one in a patient with a considerable deformity from Blount’s disease). Yang et al. stated that PSI was a viable option in complex primary TKAs where traditional instrumentation would be challenging. On the contrary, Zomar et al. [58] determined the cost-utility of PSI through a randomized controlled trial compared with standard of care instrumentation for TKA in an obese population and concluded that widespread adoption of PSI may not be economically attractive or clinically indicated (net benefit analyses found PSI was not significantly cost-effective).