Goldblatt J, Wallis C, Viljoen D, Beighton P
Clin Genet. 1987 Jan;31(1):19-24. doi: 10.1111/j.1399-0004.1987.tb02762.x.
The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen-year period, the clinical and radiographic course of the condition in a boy with the Langer type of mesomelic dysplasia. It has been suggested that dyschondrosteosis or the Madelung deformity are the phenotypic manifestations of the gene which causes Langer mesomelic dysplasia in the homozygote. Several relatives on both sides of the family which we studied had malformations of their forearms, in keeping with this concept. However, these anomalies differed from those of dyschondrosteosis and the classical Madelung deformity; the exact syndromic status of the heterozygous phenotype remains unsettled.
中肢发育不全是一组遗传性疾病，主要表现为前臂和小腿的骨骼异常。我们记录了一名患有朗格型中肢发育不全男孩在13年期间的临床和影像学病程。有人提出，软骨发育不全或马德隆畸形是导致纯合子朗格中肢发育不全的基因的表型表现。我们研究的这个家族双方的几个亲属都有前臂畸形，这与这一概念相符。然而，这些异常与软骨发育不全和典型的马德隆畸形不同；杂合子表型的确切综合征状态仍未确定。
