脆性 X 综合征的体型。
Shape in Fragile X Syndrome.
机构信息
Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany
出版信息
In Vivo. 2021 Nov-Dec;35(6):3581-3584. doi: 10.21873/invivo.12662.
BACKGROUND
Fragile X syndrome (FXS) is a relatively common syndrome with numerous, multifaceted, and often unremarkable findings. Psychic alterations are at the forefront of treatment needs. Previous studies have provided evidence for an unusual sella turcica in some patients with FXS. This report adds to the up to now sparse findings on sella morphology in FXS.
CASE REPORT
The young patient with genetically confirmed FXS was treated for a mandibular tumor. Cone beam tomography of the skull revealed a prominent sella turcica with flat tuberculum sellae and steep clivus.
CONCLUSION
Unusual sella turcica formations can be observed in FXS. A correlation with other discreet changes of FXS-related skeletal development is likely.
背景
脆性 X 综合征（FXS）是一种相对常见的综合征，具有众多、多方面且常常不明显的表现。精神改变是治疗需求的重点。先前的研究为一些 FXS 患者蝶鞍的异常提供了证据。本报告增加了迄今为止 FXS 中蝶鞍形态学的罕见发现。
病例报告
这位年轻的 FXS 患者因下颌骨肿瘤接受治疗。颅骨的锥形束计算机断层扫描显示蝶鞍明显突出，鞍结节平坦，斜坡陡峭。
结论
在 FXS 中可以观察到异常的蝶鞍形成。与 FXS 相关骨骼发育的其他离散变化相关联的可能性较大。
Zotero 插件