Charge syndrome in children
https://doi.org/10.25789/YMJ.2023.84.34
Abstract
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)
About the Authors
M. S. Savvina
Yakut Scientific Centre of Complex Medical Problems
Russian Federation
Russian Federation
Savvina Maya Semyenovna – Candidate of Medical Sciences, Senior Researcher, Laboratory for Monitoring Children's Health
O. N. Ivanova
NEFU Medical Institute
Russian Federation
Russian Federation
Ivanova Olga Nicolaevna – Doctor of Medical Sciences, Professor of the Department of Pediatrics and Pediatric Surgery
T. E. Burtseva
Ammosov NEFU Medical Institute
Russian Federation
Russian Federation
Burtseva Tatyana Egorovna – Doctor of Medical Sciences, Professor of the Department of Pediatrics and Pediatric Surgery
I. S. Ivanova
Ammosov NEFU Medical Institute
Russian Federation
Russian Federation
Ivanova Irina Semyenovna – 4 year student
References
1. CHARGE syndrome / Leviashvili J.G. et al. // Russian bulletin of Perinatology and Pediatrics. 2020. 65 )1): 116 – 121. Doi: 10.21508/1027–4065–2020–65–1–116–121
2. Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation / Khabibullina D.A. et al. // Problems of endocrinology. 2021. 67 (3): 68 – 72. Doi: 10.14341.probl.12748.
3. Balasubramanian R., Growley W.F. Reproductive endocrine phenotypes relating to CHD7 mutations in humans // Am J Med Genet C Semin Med Genet. 2017. 175 (4): 507 – 515. Doi: 10.1002/ajmg.c.31585.
4. CHARGE syndrome: a review / Hsu P. et al. // J. Paediatr Child Health. 2014. 50: 504 – 511. Doi: 10.1111/jpc.12497.
5. Cranial nerve manifestations in CHARGE syndrome / Blake K.D. et al. // J. Med Genet. 2008. 146(5): 585 – 592. Doi: 10.1002/ajmg.a32179.
6. Dijk D.R., Bocca G., Ravenswaaij – Arts C.M. Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach // J Multidiscip Healthc. 2019. 12: 607 – 620. Doi: 10.2147/JMDH.S175713.
7. Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants / Xu C. et al. // Genet Med. 2018. 20 (8): 872 – 881. Doi: 10.1038/gim.2017.197.
8. Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome / Macdonald M. et al. // Am J Med Genet A. 2017. 173 (11): 2947 – 2953. Doi: 10.1002/ajmg.a.38458.
9. Guidelines in CHARGE syndrome and the missing link: Cranial imaging / Geus C.M. et al. // Am J Med Genet C Semin Med Genet. 2017. 175 (4): 450 – 464. Doi: 10.1002/ajmg.c.31593.
10. Influence of hearing loss and cognitive abilities on language development in CHARGE syndrome / Vesseur A. et al. // Am J Med Genet. Part A. 2016. 170 (8): 2022 – 2030. Doi: 10.1002/ajmg.a.37692.
11. Ravenswaaij – Arts C., Martin D.M. New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments and research discoveries // Am J Med Genet C Semin Med Genet. 2017. 175 (4): 397 – 406. Doi: 10.1002/ajmg.c.31592.
Review
For citations:
Savvina M.S., Ivanova O.N., Burtseva T.E., Ivanova I.S. Charge syndrome in children. Yakut Medical Journal. 2023;(4):143-145. https://doi.org/10.25789/YMJ.2023.84.34
Views:
27
Email this article 