Williams syndrome in a child with a multiple organ pathology
The article describes the clinical case of Williams syndrome with the combined pathology of many systems and organs: mental retardation, congenital heart disease (supravalvular aortic stenosis), arterial hypertension, hypercalcemia, hypercalciuria complicated by nephrocalcinosis, gastrointestinal tr...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2017-11-01
|
| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/559 |
| _version_ | 1797875261686939648 |
|---|---|
| author | T. V. Mihajlova D. I. Sadykova T. V. Pudovik |
| author_facet | T. V. Mihajlova D. I. Sadykova T. V. Pudovik |
| author_sort | T. V. Mihajlova |
| collection | DOAJ |
| description | The article describes the clinical case of Williams syndrome with the combined pathology of many systems and organs: mental retardation, congenital heart disease (supravalvular aortic stenosis), arterial hypertension, hypercalcemia, hypercalciuria complicated by nephrocalcinosis, gastrointestinal tract injury, facial and eye anomalies, hernia of anterior abdominal wall, kyphoscoliosis. Microsatellite analysis of the loci of the critical region of chromosome 7 revealed a deletion of the investigated loci (D7S1870, D7S613, D7S2476, D7SEln), which led to the diagnosis of Williams syndrome. |
| first_indexed | 2024-04-10T01:43:45Z |
| format | Article |
| id | doaj.art-bd7e470be58e4ee4894873be7b3fe98e |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:43:45Z |
| publishDate | 2017-11-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-bd7e470be58e4ee4894873be7b3fe98e2023-03-13T09:12:44ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282017-11-0162510611010.21508/1027-4065-2017-62-5-106-110500Williams syndrome in a child with a multiple organ pathologyT. V. Mihajlova0D. I. Sadykova1T. V. Pudovik2Казанская государственная медицинская академия – филиал ФГБОУ ДПО РМАНПО Минздрава РоссииКазанская государственная медицинская академия – филиал ФГБОУ ДПО РМАНПО Минздрава РоссииГАУЗ «Детская городская поликлиника № 2The article describes the clinical case of Williams syndrome with the combined pathology of many systems and organs: mental retardation, congenital heart disease (supravalvular aortic stenosis), arterial hypertension, hypercalcemia, hypercalciuria complicated by nephrocalcinosis, gastrointestinal tract injury, facial and eye anomalies, hernia of anterior abdominal wall, kyphoscoliosis. Microsatellite analysis of the loci of the critical region of chromosome 7 revealed a deletion of the investigated loci (D7S1870, D7S613, D7S2476, D7SEln), which led to the diagnosis of Williams syndrome.https://www.ped-perinatology.ru/jour/article/view/559детисиндром вильямсанадклапанный стеноз аортыартериальная гипертензиягиперкальциемиянефрокальциноз. |
| spellingShingle | T. V. Mihajlova D. I. Sadykova T. V. Pudovik Williams syndrome in a child with a multiple organ pathology Rossijskij Vestnik Perinatologii i Pediatrii дети синдром вильямса надклапанный стеноз аорты артериальная гипертензия гиперкальциемия нефрокальциноз. |
| title | Williams syndrome in a child with a multiple organ pathology |
| title_full | Williams syndrome in a child with a multiple organ pathology |
| title_fullStr | Williams syndrome in a child with a multiple organ pathology |
| title_full_unstemmed | Williams syndrome in a child with a multiple organ pathology |
| title_short | Williams syndrome in a child with a multiple organ pathology |
| title_sort | williams syndrome in a child with a multiple organ pathology |
| topic | дети синдром вильямса надклапанный стеноз аорты артериальная гипертензия гиперкальциемия нефрокальциноз. |
| url | https://www.ped-perinatology.ru/jour/article/view/559 |
| work_keys_str_mv | AT tvmihajlova williamssyndromeinachildwithamultipleorganpathology AT disadykova williamssyndromeinachildwithamultipleorganpathology AT tvpudovik williamssyndromeinachildwithamultipleorganpathology |