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<article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="other" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Kazan medical journal</journal-id><journal-title-group><journal-title xml:lang="en">Kazan medical journal</journal-title><trans-title-group xml:lang="ru"><trans-title>Казанский медицинский журнал</trans-title></trans-title-group></journal-title-group><issn publication-format="print">0368-4814</issn><issn publication-format="electronic">2587-9359</issn><publisher><publisher-name xml:lang="en">Eco-Vector</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">70930</article-id><article-id pub-id-type="doi">10.17816/kazmj70930</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>Articles</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>Статьи</subject></subj-group><subj-group subj-group-type="article-type"><subject>Miscellaneous</subject></subj-group></article-categories><title-group><article-title xml:lang="en">Two cases of Sjogren-Larsson syndrome in the same family</article-title><trans-title-group xml:lang="ru"><trans-title>Два случая синдрома Шегрена—Ларссона в одной семье</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Kuzmin</surname><given-names>I. K.</given-names></name><name xml:lang="ru"><surname>Кузьмин</surname><given-names>И. К.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>info@eco-vector.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Gubar</surname><given-names>R. P.</given-names></name><name xml:lang="ru"><surname>Губарь</surname><given-names>Р. П.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>info@eco-vector.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Vasilevskaya</surname><given-names>V. V.</given-names></name><name xml:lang="ru"><surname>Василевская</surname><given-names>В. В.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>info@eco-vector.com</email><xref ref-type="aff" rid="aff1"/></contrib></contrib-group><aff id="aff1"><institution></institution></aff><pub-date date-type="pub" iso-8601-date="1986-12-15" publication-format="electronic"><day>15</day><month>12</month><year>1986</year></pub-date><volume>67</volume><issue>6</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>459</fpage><lpage>459</lpage><history><date date-type="received" iso-8601-date="2021-05-23"><day>23</day><month>05</month><year>2021</year></date><date date-type="accepted" iso-8601-date="2021-05-23"><day>23</day><month>05</month><year>2021</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 1986, Kuzmin I.K., Gubar R.P., Vasilevskaya V.V.</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 1986, Кузьмин И.К., Губарь Р.П., Василевская В.В.</copyright-statement><copyright-year>1986</copyright-year><copyright-holder xml:lang="en">Kuzmin I.K., Gubar R.P., Vasilevskaya V.V.</copyright-holder><copyright-holder xml:lang="ru">Кузьмин И.К., Губарь Р.П., Василевская В.В.</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">http://creativecommons.org/licenses/by-nc-sa/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://kazanmedjournal.ru/kazanmedj/article/view/70930">https://kazanmedjournal.ru/kazanmedj/article/view/70930</self-uri><abstract xml:lang="en"><p>Sjоgren-Larsson syndrome is a hereditary disorder detected in the first months of a child's life. It is characterized by varying degrees of oligophrenia combined with spastic diplegia and congenital universal ichthyosis, and sometimes epileptic seizures, retinitis pigmentosa in the macula, dwarfism or giant growth, genital hypoplasia and anemia. Inheritance type is autosomal recessive with high penetrance and variable expression.</p></abstract><trans-abstract xml:lang="ru"><p>Синдром Шегрена—Ларссона —наследственное заболевание, выявляющееся в первые месяцы жизни ребенка. Характеризуется олигофренией разной степени в сочетании со спастической диплегией и врожденным универсальным ихтиозом, а иногда эпилептическими припадками, пигментным ретинитом в области макулы, карликовым или гигантским ростом, гипоплазией половых органов и анемией. Тип наследования — аутосомнорецессивный с высокой пенетрантностью и вариабельной экспрессивностью.</p></trans-abstract><kwd-group xml:lang="en"><kwd>Kazan Medical archive</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>Казанский медицинский архив</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list/></back></article>
