ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2023.84.34ymj-367Research ArticleСЛУЧАЙ ИЗ ПРАКТИКИCLINICAL CASEСиндром Charge у детейCharge syndrome in childrenСаввинаМ. С.SavvinaM. S.

Саввина  Майя Семеновна – к.м.н., с.н.с. 

Savvina Maya Semyenovna – Candidate of Medical Sciences, Senior Researcher, Laboratory for Monitoring Children's Health

maya_savvina@mail.ruИвановаО. Н.IvanovaO. N.

Иванова  Ольга Николаевна – д.м.н., проф. 

Ivanova Olga Nicolaevna – Doctor of Medical Sciences, Professor of the Department of Pediatrics and Pediatric Surgery

БурцеваТ. Е.BurtsevaT. E.

Бурцева Татьяна Егоровна – д.м.н., проф. ; зав. лаб. 

Burtseva Tatyana Egorovna – Doctor of Medical Sciences, Professor of the Department of Pediatrics and Pediatric Surgery

bourtsevat@yandex.ruИвановаИ. С.IvanovaI. S.

Иванова  Ирина Семеновна – студент 4 курса МИ СВФУ. 

Ivanova  Irina Semyenovna – 4 year student 

ЯНЦ КМПРоссияYakut Scientific Centre of Complex Medical ProblemsRussian FederationМИ СВФУ им. М.К. АммосоваРоссияNEFU Medical InstituteRussian FederationМИ СВФУ; ЯНЦ КМПРоссияAmmosov NEFU Medical InstituteRussian FederationМИ СВФУРоссияAmmosov NEFU Medical InstituteRussian Federation20231302202504143145Copyright © Саввина М.С., Иванова О.Н., Бурцева Т.Е., Иванова И.С., 20252025Саввина М.С., Иванова О.Н., Бурцева Т.Е., Иванова И.С.Savvina M.S., Ivanova O.N., Burtseva T.E., Ivanova I.S.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/367

В статье представлен клинический случай синдрома CHARGE у ребенка 4 лет. Приводятся данные литературы и описание клинического наблюдения CHARGE-синдрома. 

The article presents a clinical case of CHARGE syndrome in a 4-year-old child. Literature data and a description of the clinical observation of CHARGE syndrome are given. CHARGE syndrome (Hall–Hittner syndrome; ICD-10:Q87.8) is a rare hereditary disease. The name of the syndrome is made up of the first letters of the main malformations characteristic of the disease. CHARGE: Coloboma (coloboma — a defect of the membranes of the eye), Heart disease (heart disease), choanal Atresia (hoan atresia — overgrowth of the posterior parts of the nasal cavity), growth and mental Retardation (delay in physical and mental development), Genital anomalies (anomalies of the genitourinary system)

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The authors declare that there are no conflicts of interest present.