Ehara, S; Kim, OH; Maisawa, S; Takasago, Y; Nishimura, G
European journal of pediatrics, 156(8):627-630, 1997
European journal of pediatrics
We present a previously undescribed skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal femoral metaphyses, and lacy appearance of the iliac wings. Two of the three cases were siblings. Retinitis pigmentosa and optic atrophy are associated findings. CONCLUSION: We describe a new type of spondylometaphyseal dysplasia (SMD) and propose the name axial SMD.
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