These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Axial spondylometaphyseal dysplasia.
    Author: Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G.
    Journal: Eur J Pediatr; 1997 Aug; 156(8):627-30. PubMed ID: 9266195.
    Abstract:
    UNLABELLED: 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.
    [Abstract] [Full Text] [Related] [New Search]