41 e-Letters

published between 2003 and 2006

  • Clinical and Genetic Heterogeneity in Desbuquois Dysplasia
    Laurence Faivre

    Dear Editor

    Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterized by markedly short stature of prenatal onset, joint laxity, facial dysmorphism including round face, prominent bulging eyes and midface hypoplasia.

    The radiological findings include a ‘Swedish key’ appearance of the proximal femur, advanced carpal and tarsal bone age and typical hand changes consisting in an extra o...

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