Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome)

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...

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Published in:Case reports in radiology 2017-01, Vol.2017 (2017), p.1-5
Main Authors: Cheppala Rajan, Seena, Muralidharan, Yuvaraj, Ramesh Baabhu, Akshiitha, Nazir, Haji Mohammed
Format: Article
Language:English
Subjects:
Abnormalities
Age
Aging
Baldness
Bones
Case Report
Case reports
Chin
Cholesterol
Diagnosis
Genetic disorders
Hair
Heart attacks
Heart failure
Mutation
Nose
Pediatrics
Progeria
Radiology
Veins
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creator Cheppala Rajan, Seena
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description 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.
doi_str_mv 10.1155/2017/1305360
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subjects Abnormalities
Age
Aging
Baldness
Bones
Case Report
Case reports
Chin
Cholesterol
Diagnosis
Genetic disorders
Hair
Heart attacks
Heart failure
Mutation
Nose
Pediatrics
Progeria
Radiology
Veins
title Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome)
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