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Axial spondylometaphyseal dysplasia

  • MEDICAL GENETICS
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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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Authors and Affiliations

  1. Department of Radiology, Iwate Medical University School of Medicine, 19-1 Uchimaru, Morioka 020, Japan Tel.: x81-196-51-5111, ext 3689, Fax: x81-196-51-7071, E-mail: ehara@iwate-med.ac.jp, , , , , , JP

    S. Ehara

  2. Department of Diagnostic Radiology, Ajou University College of Medicine, Suwon, Korea, , , , , , KR

    O. H. Kim

  3. Morioka Children's Hospital, Morioka, Japan, , , , , , JP

    S. Maisawa & Y. Takasago

  4. Department of Radiology, Dokkyo University School of Medicine, Tochigi, Japan, , , , , , JP

    G. Nishimura

Authors
  1. S. Ehara
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  2. O. H. Kim
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  3. S. Maisawa
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  4. Y. Takasago
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  5. G. Nishimura
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Additional information

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

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