Williams Syndrome with a “Twist”
Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetio...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2010-01-01
|
| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2010/726845 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832565159530332160 |
|---|---|
| author | Despoina Maritsi Lydia Kossiva George Vartzelis |
| author_facet | Despoina Maritsi Lydia Kossiva George Vartzelis |
| author_sort | Despoina Maritsi |
| collection | DOAJ |
| description | Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetiology. |
| format | Article |
| id | doaj-art-43b8199f056f486b99b1525784748e7c |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2010-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-43b8199f056f486b99b1525784748e7c2025-02-03T01:09:05ZengWileyCase Reports in Medicine1687-96271687-96352010-01-01201010.1155/2010/726845726845Williams Syndrome with a “Twist”Despoina Maritsi0Lydia Kossiva1George Vartzelis2Rheumatology Department, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1H 3JH, UKDepartement of Academic Pediatrics, “P. & A. Kyriakou” Children's Hospital, Athens 115-21, GreeceDepartement of Academic Pediatrics, “P. & A. Kyriakou” Children's Hospital, Athens 115-21, GreeceWilliams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetiology.http://dx.doi.org/10.1155/2010/726845 |
| spellingShingle | Despoina Maritsi Lydia Kossiva George Vartzelis Williams Syndrome with a “Twist” Case Reports in Medicine |
| title | Williams Syndrome with a “Twist” |
| title_full | Williams Syndrome with a “Twist” |
| title_fullStr | Williams Syndrome with a “Twist” |
| title_full_unstemmed | Williams Syndrome with a “Twist” |
| title_short | Williams Syndrome with a “Twist” |
| title_sort | williams syndrome with a twist |
| url | http://dx.doi.org/10.1155/2010/726845 |
| work_keys_str_mv | AT despoinamaritsi williamssyndromewithatwist AT lydiakossiva williamssyndromewithatwist AT georgevartzelis williamssyndromewithatwist |