The case of rare genetic mutation in a child with the Wolf–Hirschhorn syndrome from the family irradiated during the Chernobyl accident
Wolf – Hirschhorn syndrome is a rare genetic disease caused by the deletion of the end of the short arm of the 4th chromosome; it is manifested by numerous congenital malformations, delayed physical and psychomotor development. The article describes clinical experience of managing a patient with Wol...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2019-11-01
|
| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/977 |
| Summary: | Wolf – Hirschhorn syndrome is a rare genetic disease caused by the deletion of the end of the short arm of the 4th chromosome; it is manifested by numerous congenital malformations, delayed physical and psychomotor development. The article describes clinical experience of managing a patient with Wolff – Hirschhorn syndrome born to exposed parents who lived in a territory contaminated with radionuclides after the Chernobyl accident. The article describes pathogenetic aspects of the development of the disease and the need for timely diagnostics. |
|---|---|
| ISSN: | 1027-4065 2500-2228 |