Fryns J P, Hofkens G, Fabry G, van den Berghe H
Center for Human Genetics, University of Leuven, Belgium.
Clin Genet. 1988 Jan;33(1):57-9. doi: 10.1111/j.1399-0004.1988.tb04266.x.
In this report we describe the occurrence of severe mesomelic shortening of the forearms due to hypoplasia of the ulnae with severe radial bowing. In contrast to the mesomelic dysplasias, i.e. Langer type of mesomelic dwarfism, this apparently autosomal dominantly inherited skeletal anomaly occurred as an isolated anomaly without concomitant involvement of shanks or other parts of the skeleton, and did not influence final adult height.
在本报告中，我们描述了因尺骨发育不全伴严重桡骨弓形弯曲而导致前臂严重中肢缩短的病例。与中肢发育异常，即朗格型中肢侏儒症不同，这种明显为常染色体显性遗传的骨骼异常表现为孤立性异常，未伴有小腿或骨骼其他部位受累，且不影响最终成年身高。
