成骨不全症的一种不寻常表现：病例报告。

An Unusual Presentation of Osteogenesis Imperfecta: A Case Report.

机构信息

Oregon Health & Science University, Portland, Oregon.

Shriners Hospitals for Children-Portland, Portland, Oregon.

出版信息

JBJS Case Connect. 2021 Nov 22;11(4):01709767-202112000-00059. doi: e21.00480.

DOI:10.2106/JBJS.CC.21.00480

PMID:34807880

Abstract

CASE

We report an 18-year-old patient with a clinical phenotype consistent with severe osteogenesis imperfecta (OI) with frequent fractures, short stature, shortening and bowing of extremities, and unusual radiographic features of severe fibrous dysplasia, including lytic lesions and a "ground-glass" appearance. Genetic testing for the patient was notable for a c.119C>T (p.Ser40Leu) variant in exon 1 of IFITM5 and a c.676C>A (Pro226Thr) variant in exon 5 of CREB3L1.

CONCLUSION

This unusual skeletal presentation was in the setting of a rare IFITM5 mutation and represents a unique case of severe OI.

摘要

病例

我们报告了一例 18 岁患者，其临床表现与严重型成骨不全症（OI）一致，表现为频繁骨折、身材矮小、四肢缩短和弯曲，以及影像学上不寻常的严重纤维结构不良特征，包括溶骨性病变和“磨砂玻璃”外观。对患者的基因检测显示 IFITM5 外显子 1 中的 c.119C>T（p.Ser40Leu）变异和 CREB3L1 外显子 5 中的 c.676C>A（Pro226Thr）变异。