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Spondylometaphyseal dysplasia, Sedaghatian type
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
Skeletal dysplasia
A general term describing features characterized by abnormal development of bones and connective tissues.
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