Maclean R N, Prater W K, Lozzio C B
Am J Med Genet. 1983 Feb;14(2):373-80. doi: 10.1002/ajmg.1320140218.
We report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal dysplasia. Other findings include congenital bowing of other long bones, narrow thorax, platyspondyly, micrognathia, and skin dimples. A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo. Congenital bowing of long bones can be an isolated finding or associated with other anomalies, so the purpose of reporting all cases is important for further nosologic and pathogenetic elucidation. Because of the severity of the femoral involvement, the condition has been called kyphomelic dysplasia. It may be an autosomal recessive trait. recessive trait.
我们报告了一名婴儿，其最显著的表现是股骨短且严重成角，这是一种全身性骨骼发育异常。其他发现包括其他长骨的先天性弓形、胸廓狭窄、椎体扁平、小颌畸形和皮肤凹陷。在6个月的时间里，观察到弓形和干骺端不规则增宽有明显改善。长骨先天性弓形可以是孤立的发现，也可与其他异常相关，因此报告所有病例对于进一步阐明疾病分类学和发病机制很重要。由于股骨受累严重，这种情况被称为脊柱后凸肢体发育异常。它可能是一种常染色体隐性性状。
