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 spondylometa-physeal dysplasia (SMD) and propose the name axial SMD.
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Received: 25 November 1996 / Accepted: 5 Februrary 1997
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Ehara, S., Kim, O., Maisawa, S. et al. Axial spondylometaphyseal dysplasia. Eur J Pediatr 156, 627–630 (1997). https://doi.org/10.1007/s004310050679
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DOI: https://doi.org/10.1007/s004310050679