Goldenhar syndrome in a newborn girl: Clinical observation

The relevance of the description of the presented clinical case is due to the fact that this pathology is extremely rare; there is practically no description of the clinical manifestations of the disease in the domestic literature. In addition, there is currently an increase in the risk of this syndrome and the complexity of prenatal diagnosis of the disease should also be noted, since it is a consequence of mutations in genes. Goldenhar syndrome (or branchial arch syndrome) is a rare congenital disorder that presents with multiple malformations and primarily affects facial structures. The average incidence of Goldenhar syndrome is 1 case in 3500-25000 newborns. For the formation of congenital malformations, first of all, the body of a pregnant woman must be genetically predisposed to the effects of damaging environmental factors. We examined a newborn girl with Goldenhar syndrome. Goldenhar syndrome in a child was manifested by damage to the facial skeleton, auditory and visual analyzers, anomalies in the development of the skeletal system and was combined with congenital heart and brain defects. We believe that in this case there is also the influence of several risk factors on the fetus in the prenatal period, such factors as the father’s age over 50 years, anemia during pregnancy, prolonged early toxicosis, late referral of the pregnant woman to the antenatal clinic, previous acute respiratory infections and Covid-19. 19 infection in early pregnancy. Proper organization of key components of prevention will greatly reduce the birth of children with congenital malformations.Keywords: Goldenhar syndrome, anotia, micrognathia, multiple congenital malformations, coloboma, congenital heart defects, clinical case.