Nazir Haji Mohammed, Ramesh Baabhu Akshiitha, Muralidharan Yuvaraj, Cheppala Rajan Seena
Saveetha Medical College and Hospital, Saveetha Nagar, Thandalam, Chennai, Tamil Nadu 602105, India.
Case Rep Radiol. 2017;2017:1305360. doi: 10.1155/2017/1305360. Epub 2017 Sep 12.
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair.
哈钦森-吉尔福德早衰综合征（HGPS）是一种罕见疾病，具有身材矮小、骨骼异常、早衰和皮肤变化等特征。尽管这些患者的外貌具有特征性，但对其特征性放射学表现的关注较少。在本文中，我们报告了一名16岁男孩，他具有这种罕见遗传疾病的临床和放射学特征。他具有特征性的面部外观，头部较大、眼睛较大、鼻子细长且鼻尖呈喙状、下巴较小、耳朵突出、头皮静脉明显以及头发缺失。
