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.