Japanese type of spondylo-metaphyseal dysplasia

T. Hasegawa, K. Kozlowski, G. Nishimura, H. Hara, Y. Hasegawa, T. Aso, S. Koto, T. Nagai, Y. Tsuchiya

研究成果: Article査読

15 被引用数 (Scopus)

抄録

Five members of a Japanese family with a new form of spondylo-metaphyseal dysplasia (SMD) are reported. Another member was also probably affected. The disease was characterised by severe coxa vara, moderately severe metaphyseal changes of the long bones of the lower limbs, mild changes in the long bones of the upper limbs and grossly normal short tubular bones. Platyspondyly, present in the boys, was less marked in their father, whereas two affected aunts had normally shaped vertebral bodies.

本文言語English
ページ(範囲)194-197
ページ数4
ジャーナルPediatric Radiology
24
3
DOI
出版ステータスPublished - 1994 6 1
外部発表はい

ASJC Scopus subject areas

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

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