Spondylar dysplasia in type X collagenopathy

G. Nishimura, N. Manabe, K. Kosaki, N. Haga, H. Ohashi, K. Nakamura, S. Ikegawa

研究成果: Article査読

4 被引用数 (Scopus)

抄録

Background. The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family. Objective. To elucidate whether or not spondylar dysplasia is common in patients with mutations of COL10A1. Materials and methods. We re-evaluated the radiological manifestations in six patients with mutations of COL10A1, who had been previously reported as having MDS. Results. Two of six patients showed mild platyspondyly in infancy and early childhood. In both patients, the spondylar dysplasia tended to normalize with age, but mild alterations of the vertebral bodies persisted, even into late childhood. The other radiological manifestations of both patients were identical to those of MDS. Conclusion. Our observation suggests that mild spondylar dysplasia may not be uncommon in MDS.

本文言語English
ページ(範囲)76-80
ページ数5
ジャーナルPediatric Radiology
31
2
DOI
出版ステータスPublished - 2001
外部発表はい

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

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