Open AccessThe case of rare genetic mutation in a child with the Wolf–Hirschhorn syndrome from the family irradiated during the Chernobyl accident
Author(s) -
М. П. Сафонова,
А. Е. Сипягина,
Л. С. Балева,
И. В. Канивец
Publication year - 2019
Publication title -
rossijskij vestnik perinatologii i pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 4
eISSN - 2500-2228
pISSN - 1027-4065
DOI - 10.21508/1027-4065-2019-64-5-104-108
Subject(s) - psychomotor learning , congenital malformations , disease , accident (philosophy) , pediatrics , genetic disorder , genetics , mutation , medicine , biology , pathology , psychiatry , pregnancy , cognition , philosophy , epistemology , gene
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.