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Axial spondylometaphyseal dysplasia.

Authors
Ehara, S; Kim, OH; Maisawa, S; Takasago, Y; Nishimura, G
Citation
European journal of pediatrics, 156(8):627-630, 1997
Journal Title
European journal of pediatrics
ISSN
0340-61991432-1076
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.
MeSH terms
Bone and Bones/pathology/radiographyChildChild, PreschoolEye Diseases/complicationsFemaleHumansMaleOsteochondrodysplasias/complications/*pathology/*radiographySyndrome
PMID
9266195
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
AJOU Authors
김, 옥화
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