Spondylometaphyseal dysplasia
Abstract
A family is described in which the father, son, and daughter have spondylometaphyseal dysplasia, consistent with an autosomal dominant pattern of inheritance. Radiologic changes spanning a period from 4 months to 31 years are described. Platyspondyly and metaphyseal deformity predominate. The severity of the radiologic changes is variable.
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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