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Spondyloepiphysial dysplasia

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spondyloepiphysial dysplasia

A group of conditions characterised by growth insufficiency of the vertebral column, with flattening of vertebrae, and often involving the epiphyses at the hip and shoulder; results in dwarfism of the short trunk type, often also with short extremities, sometimes with other malformations; types with dominant, recessive [, and x-linked recessive inheritance have been described in different families.