| About the author: |
Z. Sh. Mursalova, N. C. Rakhimova, S. R. Nasirova, A. I. Abbasaliyeva, A. F. Alkhazova |
| Heading |
CLINICAL MEDICINE |
| Type of article |
Scentific article |
| Annotation |
Basel-Vanagaite-Smirin-Yosef Syndrome is a rare syndrome of genetic mental retardation caused by an autosomal recessive mutation of the MED 25 gene. 112 case histories of patients aged 1 month-3 years old with seizures were analyzed. During observation symptoms, characteristic for Basel-Vanagaite-Smirin-Yosef syndrome were detected. By comparing the frequency of clinical symptoms in this patient with others, we found that this syndrome is more characterized by a combination of sparse eyebrows and hair, wide forehead, retrognathia, hypertelorism with malformations of the brain and heart, and for early diagnosis an approach based on deep research should be recommended. A multidisciplinary approach to symptom management and timely initiation of prophylaxis of complications can improve the quality of life of these patients. |
| Tags |
Basel Vanagaite-Smirin-Yosef Syndrome (BVSYS),MED25 gene,autosomal recessive type,mental retardation,multiple congenital anomalies |
| Bibliography |
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- Pollack L, Prasad Ch, Goobie Sh., Colaiacovo S, Wolfinger T, Lacassieet Y. Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients. First published: 23 April 2020, Americal Journal of Medical genetics. https://doi.org/10.1002/ajmg.a.61603.
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| Publication of the article |
«World of Medicine and Biology» №1(87), 2024 year, 140-143 pages, index UDK 616-056.7 |
| DOI |
10.26724/2079-8334-2024-1-87-140-143 |
