Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man

接头(建筑物) 发育不良 心理学 历史 谱系学 医学 内科学 工程类 结构工程
作者
Alexander Beke,Karina da Costa Silveira,Taryn Athey,Pekka Kannus
出处
期刊:American Journal of Medical Genetics Part C: Seminars in Medical Genetics [Wiley]
卷期号:193 (2): 188-192 被引量:2
标识
DOI:10.1002/ajmg.c.32053
摘要

Abstract 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.
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