脊柱外端干干发育不良伴关节松弛,leptodactylic型(SEMDJL2),是一种罕见的骨发育不良,由KIF22中的热点(氨基酸148/149)突变引起。临床上,患有全身关节松弛的受影响个体,肢体排列不良,脸中部发育不全,优雅的数字,出生后身材矮小,偶尔,气管软化;另外,放射学特征包括严重的epi-meta端异常和细长的掌骨。本报告评估了SEMDJL2在文献中报道的最古老的个体的一生中的进展-一个具有致病性KIF22变体的66岁男性(c.443C>T,p.Pro148Leu)。先证者发展出许多临床和放射学改变,与文献中其他个体的表现一致。有趣的是,在他的一生中,联合限制取得进展,从膝盖和肘部狭窄开始(20年),后来,肩膀的限制,臀部,脚踝,和手腕(40年)。这与以前的病例报告不同,其中接头限制在1到2个接头中确定。累计,渐进性全身关节受限导致提前退休(45岁),难以完成日常任务和管理个人卫生,最终需要辅助生活(65岁).总之,我们报道了一名66岁男性SEMDJL2患者的临床和放射学进展,该患者在成年期出现明显的关节受限.
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (SEMDJL2), is a rare bone dysplasia that results from hotspot (amino acids148/149) mutations in KIF22. Clinically, affected individuals present with generalized joint laxity, limb malalignment, midface hypoplasia, gracile digits, postnatal short stature, and occasionally, tracheolaryngomalacia; additionally, radiological features include severe epi-metaphyseal abnormalities and slender metacarpals. This report evaluates the progression of SEMDJL2 throughout the life of the oldest individual reported in the literature-a 66-year-old man with a pathogenic KIF22 variant (c.443C > T, p.Pro148Leu). The proband developed many of the clinical and radiological alterations consistent with the presentation of other individuals in the literature. Interestingly, throughout his life, joint limitation progressed, beginning with knee and elbow stricture (year 20), and later, limitation of the shoulders, hips, ankles, and wrists (year 40). This differs from previous case reports, where joint limitation is identified in 1-to-2 joints. Cumulatively, the progressive body-wide joint limitation resulted in early retirement (year 45) and difficulty completing daily tasks and managing personal hygiene culminating in the need for assisted living (year 65). In conclusion, we report on the clinical and radiological developments of a 66-year-old man with SEMDJL2, that developed significant joint limitation in adulthood.