一例伴有腕骨骨化延迟及股骨“猴扳钳样”外观的骨骼发育异常：轻度德布凯发育异常？

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

作者信息

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

机构信息

Department of Radiology, Dokkyo University School of Medicine, Tochigi-ken, Japan.

出版信息

Eur J Pediatr. 1996 Dec;155(12):1040-2. doi: 10.1007/BF02532527.

DOI:10.1007/BF02532527

PMID:8956941

Abstract

UNLABELLED

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.

摘要

未标注

我们报告了一名14岁的日本男孩，其影像学特征类似于德斯布瓦氏发育不良，包括腕骨骨化提前、股骨近端呈“猴扳钳”样外观、轻度脊椎发育不良和全身性骨质减少。然而，与迄今已知患有这种疾病的患者不同，他出生时身长正常，出生后出现的身材矮小比先前报道的病例要轻得多（约低于平均水平5个标准差），关节松弛也更不明显。此外，面部畸形、第二手指桡侧偏斜和胸腰椎脊柱侧凸均不存在。