THE CLINICAL CASE OF HEMIFACIAL MICROSOMIA IN THE NEWBORN BOY FROM MOTHER WITH Z-21

Abstract

Hemifacial Microsomia (HFM) is a term used to identify facial deformities associated with the development of the first and second pairs of branchial arches, characterized by underdevelopment of one half of the face. One type of hemifacial microsomia is oculo-auriculo-vertebral dysplasia or Goldenhar syndrome. The incidence of HFM is 1:3500-1:7000 of live births and occurs in 1 case per 1000 children with congenital deafness. The ratio of boys to girls is 3:2. The etiology and type of inheritance is studied insufficiently. There are three possible pathogenetic models: vascular abnormalities and hemorrhages in the craniofacial region, damage of Meckel's cartilage, and abnormal cell development of the cranial nerve crest. Environmental factors, maternal internal factors, and genetic factors (OTX2, PLCD3, and MYT1 mutations) may also cause the development of hemifacial microsomia. The article demonstrates a clinical case of hemifacial microsomia in a newborn boy from a mother with Z-21 in the form of deformation of the left auricle with atresia of the auditory canal and "false" ears on the right, combined with congenital anomaly of heart (atrial septal defect) and brain (hypoplasia of the corpus callosum). Emphasis is placed on the need of involving a multidisciplinary team of specialists in the management of this patient both in the neonatal period and in the system of subsequent follow-up.