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Case Reports
. 1997 Aug;156(8):627-30.
doi: 10.1007/s004310050679.

Axial spondylometaphyseal dysplasia

S Ehara  1 , O H Kim, S Maisawa, Y Takasago, G Nishimura
Affiliations
Case Reports

Axial spondylometaphyseal dysplasia

S Ehara et al. Eur J Pediatr. 1997 Aug.

Abstract

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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