A case of skeletal dysplasia with advanced carpal ossification and 'monkey wrench' appearance of the femora: Mild Desbuquois dysplasia?

G. Nishimura, S. Sato, T. Ogata, S. Tamai, T. Hasegawa, N. Matsuo

研究成果: Article

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We report on a 14-year-old Japanese boy with radiographic features resembling those of Desbuquois dysplasia, including advanced carpal ossification, a 'monkey wrench' appearance of the proximal femora, mild spondylar dysplasia, and generalized osteopenia. In contrast to the hitherto known patients with this disorder, however, his birth length was normal, and his short stature, which became apparent postnatally, was much milder than that of the previously reported cases (approximately -5 SD of average). and the joint laxity was more subtle. In addition, facial dysmorphism was absent, as were radial deviation of the second fingers and thoracolumbar kyphoscoliosis. Conclusion: The present patient may represent the mildest end of the variable phenotypic manifestation of the recently described Desbuquois dysplasia.

元の言語English
ページ(範囲)1040-1042
ページ数3
ジャーナルEuropean Journal of Pediatrics
155
発行部数12
DOI
出版物ステータスPublished - 1996 1 1

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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