Syndrome of the First Gill Arch in a Newborn Child (Clinical Case)

Abstract

The article describes a clinical case of “First Gill Arch Syndrome" in a newborn girl, the peculiarities of the syndrome, its diagnosis. The characteristics of this disease is that the mother of the child was at risk group due to smoking, anaemia during the pregnancy and medical abortions in the past obstetric history. The aetiology of "First Gill Arch Syndrome" is insufficiently studied, but, according to latest concepts, this condition results from the mutations in the TCOF1 gene. The aetiology of the disease also does not exclude the role of adverse obstetric and gynaecological anamnesis and diseases of the mother, previous medical abortions and teratogenic factors. Difficulties in diagnosis are due to the large variability of clinical manifestations and course of the disease. The final diagnosis of the child was based on specific clinical signs of the disease: facial asymmetry, unilateral facial paralysis (lesions of the facial nerve on the right), the presence of blind fistula of the left cheek and skin suspension of the left auricle. We can conclude about the necessity to elaborate preventive measures to reduce the occurrence of this disease: timely ultrasound examination of pregnant women, who are at risk and mandatory dynamic monitoring of a child with this disease to assess physical and neuropsychological development.