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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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Radiology |
| Online Access: | http://dx.doi.org/10.1155/2017/1305360 |
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| author | Haji Mohammed Nazir Akshiitha Ramesh Baabhu Yuvaraj Muralidharan Seena Cheppala Rajan |
| author_facet | Haji Mohammed Nazir Akshiitha Ramesh Baabhu Yuvaraj Muralidharan Seena Cheppala Rajan |
| author_sort | Haji Mohammed Nazir |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-0559bb3e01dd4ac7a09d7da4df7629f8 |
| institution | Kabale University |
| issn | 2090-6862 2090-6870 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Radiology |
| spelling | doaj-art-0559bb3e01dd4ac7a09d7da4df7629f82025-08-20T03:54:25ZengWileyCase Reports in Radiology2090-68622090-68702017-01-01201710.1155/2017/13053601305360Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome)Haji Mohammed Nazir0Akshiitha Ramesh Baabhu1Yuvaraj Muralidharan2Seena Cheppala Rajan3Saveetha Medical College and Hospital, Saveetha Nagar, Thandalam, Chennai, Tamil Nadu 602105, IndiaSaveetha Medical College and Hospital, Saveetha Nagar, Thandalam, Chennai, Tamil Nadu 602105, IndiaSaveetha Medical College and Hospital, Saveetha Nagar, Thandalam, Chennai, Tamil Nadu 602105, IndiaSaveetha Medical College and Hospital, Saveetha Nagar, Thandalam, Chennai, Tamil Nadu 602105, IndiaHutchinson-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.http://dx.doi.org/10.1155/2017/1305360 |
| spellingShingle | Haji Mohammed Nazir Akshiitha Ramesh Baabhu Yuvaraj Muralidharan Seena Cheppala Rajan Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome) Case Reports in Radiology |
| title | Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome) |
| title_full | Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome) |
| title_fullStr | Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome) |
| title_full_unstemmed | Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome) |
| title_short | Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome) |
| title_sort | radiological diagnosis of a rare premature aging genetic disorder progeria hutchinson gilford syndrome |
| url | http://dx.doi.org/10.1155/2017/1305360 |
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