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Journal of the Korean Academy of Rehabilitation Medicine 1994;18(3):28.
Spondyloepimetaphyseal Dysplasia -Cases report in sibbling-
Joon Yong Bak, M.D., Hee Sang Kim, M.D. , Kyung Hoi Ahn, M.D.
Department of Rehabilitation Medicine, Kyung Hee University College of Medicine
Spondyloepimetaphyseal Dysplasia 남매 1례의 보고
박준용, 김희상, 안경회
경희대학교 의과대학 재활의학교실
Abstract

The spondyloepimetaphyseal dysplasia are subclassifications of chondrodystrophies with selective and combined 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.

Kozlowski, 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 sibbling and reported the cases with physical examination, radiologic findings, chromosomal analysis and various clinical evaluation.

Key Words: Spondyloepimetaphyseal dysplasia, Autosomal recessive, Dysplasia, Spondyloepimetaphyseal dysplasia
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