Spondyloepimetaphyseal dysplasia

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Spondyloepimetaphyseal dysplasia
Other names: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepimetaphyseal dysplasia is inherited in an autosomal dominant manner

Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones.[1]

Types include:

Variant of SMD type A4-a)Metaphyseal involvement of the distal radius and ulna b)metaphyseal involvement and severe coxa valga c) lumbar lordosis d) spinal scoliosis in spite of 6 years of bracing e) delayed ossification of pubic bones f) severe metaphyseal changes and genu valgum deformity g)severe metaphyseal involvement of forearm bones

References

  1. Ian Young (15 June 2002). Genetics for Orthopedic Surgeons: The Molecular Genetic Basis of Orthopedic Disorders. Remedica. pp. 41–. ISBN 978-1-901346-42-8. Archived from the original on 8 February 2022. Retrieved 3 January 2011.






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Classification
External resources