The spondyloepimetaphyseal dysplasias are subclassifications of chondrodystrophies with selective and comibined involvement of the vertebrae and long bone epiphyses and metaphyses.
The clinical findings include short-trunk dwarfism, platyspondyly, coxa vara, kyphoscoliosis, lumbar lordosis, barrel-shaped thorax and odontoid hypoplasia.
Kozlowaski, in 1974, described the micromelic type of spondyloepimetaphyseal dysplasia, presumed to be of autosomal recessive inheritance, with greatest shortening in the proximal portion of the limbs.
We experienced two cases of spondyloepimetaphyseal dysplasia in sibbliing and reported the cases with physical examinations, radiologic findings, chromosomal analysis and various clinical evaluations.
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