Kerner B, Rimoin D L, Lachman R S
Department of Medical Genetics and Pediatrics Cedars-Sinai Medical Center University of California, Los Angeles Los Angeles, California USA.
Pediatr Radiol. 1998 Oct;28(10):794-7. doi: 10.1007/s002470050467.
We report a boy with mesomelic dysplasia of the forearms, skin dimples, mildly bowed tibiae, metatarsus adductus, congenital cataracts, sensorineural hearing loss, hypotonia, and mildly dysmorphic features. Prominent radiologic findings include bony spurs of the diaphyses of the radii bilaterally with angulated, significantly shortened radii and ulnae and elbow dislocations. Changes in the lower extremities are confined to bowing of the tibiae and elongation of the thinned fibulae. To our knowledge this case represents a unique combination of findings not previously reported, although some resemblance was found to a patient reported by Kozlowski et al. in 1993.
我们报告了一名患有前臂中肢发育不全、皮肤酒窝、胫骨轻度弓形、内收跖骨、先天性白内障、感音神经性听力损失、肌张力减退和轻度畸形特征的男孩。突出的放射学表现包括双侧桡骨干骺端的骨赘，伴有成角、明显缩短的桡骨和尺骨以及肘关节脱位。下肢的变化仅限于胫骨弓形和变薄的腓骨延长。据我们所知，尽管与Kozlowski等人在1993年报告的一名患者有一些相似之处，但该病例代表了以前未报告过的独特发现组合。
