Clinical significance of the pre- and antenatal period in identifying additional symptoms of craniofacial microsomiaстатья
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Дата последнего поиска статьи во внешних источниках: 15 мая 2024 г.
Аннотация:Craniofacial microsomia syndrome is one of the manifestations of maxillofacial dysostoses. Its characteristic symptoms are identified by the OMENSplus classification, where “OMENS” is an anagram of the named affected organs of the head, “plus” is other symptoms. The search for a relationship in the etiology and pathogenesis of the main and increased symptoms of craniofacial microsomia is relevant. The purpose of the study was to identify the features of the course of pregnancy, childbirth and concomitant diseases in patients with craniofacial microsomia syndromes. Materials and methods. The anamnesis of life, diseases, conclusions of specialists who were registered with 111 patients from 0 to 18 years old with craniofacial microsomia syndrome from 2011 to 2022 were studied. The results were compared with literature data. Results. In mothers of the examined children, the first pregnancy in a row prevailed (46%). Among the aggravated obstetric anamnesis, there were: cord entanglement, fetal hypoxia, premature detachment of a normally located placenta, retroplacental hematoma, phenoplacental insufficiency, impaired fat metabolism, gestational diabetes mellitus, anemia, infectious diseases, including pneumonia, cytomegalovirus infection, viral hepatitis C, syphilis as well as IVF. Among the comorbidities of patients, the following prevailed: disorders of the central nervous system (31%), anomalies in the development of the heart (25%), chest deformity (14%) and a vicious head position (9%), which does not contradict the literature data, but does not confirm them. due to insufficient number of observations. Conclusions. 1) The etiology of craniofacial microsomia is multifactorial. 2) Concomitant pathologies in patients with craniofacial microsomia can be both independent diseases and additional symptoms of the syndrome. 3) The analysis of the DNA test for the duplication of the 22q11.2 gene should be included in the clinical recommendations, however, even if the result of this genetic study is available, it is not possible to assess the risk of symptoms of craniofacial microsomia syndrome. 4) To verify the diagnosis, a multidisciplinary approach is required, including radiation methods of examination.