Синдром Вольфа–Хиршхорна: этиология, патогенез, клиника, особенности симптоматической терапии и анестезиологического пособия, пренатальная диагностика (обзор литературы)

   Синдром Вольфа-Хиршхорна (WHS, 4p-синдром) (OMIM: 194190, МКБ-10: Q93.3) ассоциирован с частичной делецией дистальной части короткого плеча хромосомы 4 (4p16.3) и считается синдромом смежных генов. Краниофациальный фенотип пациентов включает нос в форме «шлема греческого воина», высокий лоб, выпуклую глабеллу, гипертелоризм, высокие изогнутые брови, экзофтальм, эпикант, короткий фильтр, рот с опущенным вниз уголками, микрогнатию. Данный синдром характеризуется пре- и постнатальной задержкой антропометрических показателей, врожденными пороками развития различных систем, умственной отсталостью и эпилепсией.

   Цель настоящего обзора состоит в том, чтобы представить подробные данные об этиологии, патогенезе, клинической картине синдрома, а также возможностях медицинской помощи пациентам.

   В текущем обзоре освещены важные медицинские аспекты: проблемы с питанием, характер эпилептических приступов и возможности терапии, психиатрическая помощь, особенности анестезиологического пособия.

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