Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome). (12th September 2017)

• Record Type: Journal Article
• Authors: Nazir, Haji Mohammed; Ramesh Baabhu, Akshiitha; Muralidharan, Yuvaraj; Cheppala Rajan, Seena
• Other Names: Link Daniel P. Academic Editor.
• Is Part Of: Case reports in radiology. Volume 2017(2017)
• Publication Date: 2017-09-12
• Subjects: Radiology -- Periodicals; Radiology -- Case studies -- Periodicals; Medical radiology -- Periodicals; Radiology; Radiology; Medical radiology; Periodicals; Electronic journals; Case studies; Periodicals; 616.0757
• DOI: 10.1155/2017/1305360
• Languages: English
• ISSNs: 2090-6862

Abstract

Abstract : 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.