颅缝闭合不良1例-回顾经典影像学表现与颅缝闭合-罕见的关联

K. Nadanasadharam, S. Jayanthan, N. Yuvaraj, S. Hariharan
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引用次数: 0

摘要

脊柱发育不良是一种罕见的骨骼发育不良,其特征是不成比例的身材矮小,颅面异常,如额部和枕部隆起,小脸,鹰嘴鼻,下颌骨发育不全,牙列异常,末端手指和脚趾发育不全。除此之外,锁骨外侧发育不全、弥漫性骨硬化和脊柱节段异常也有报道。虽然经典的临床表现可能存在,但影像学在排除其他骨硬化性骨骼发育不良的诊断中起着重要作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of pycnodysostosis – Review of classical imaging findings with craniosynostosis – A rare association
Pycnodysostosis is a rare skeletal dysplasia, which is characterized by disproportionate short stature, craniofacial abnormalities such as frontal and occipital bossing, small face, beaked nose, hypoplastic mandible, abnormal dentition, and hypoplastic terminal fingers and toes. In addition to these, the hypoplastic lateral end of clavicle, diffuse bone sclerosis, and segmentation anomalies of the spine are also reported. Although classical clinical findings may be present, imaging plays an important role in the diagnosis of this condition by ruling out other osteosclerotic skeletal dysplasias.
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