ANOMALAD OF PIERRE-ROBIN IN CLINICAL PRACTICE OF PEDIATRICIAN

Abstract

Congenital malformation of maxillofacial area with severe underdevelopment of the lower jaw, consequently reducing the mouth and tongue retraction, preventing closure of palatal plates with the formation of cleft soft palate, which is often combined with multiple other abnormalities. The basis of this syndrome is the abnormal growth and development of the embryo, which is characterized by impaired development of the original embryonic state (due to defects of the first gill arch). The tongue is placed back strongly, reaching the sinuses to the nose, palate-pharyngeal between brackets are focused heavily down. The development of these abnormalities caused by certain infections during pregnancy or neurogenetic violations, the presence of mechanical compression inside the uterus, and may be due to family heredity (in their favor point defects in the face of some members of a particular family). Major diagnostic criteria micrognathia (small, short lower jaw) and (or) retrognathia (sunk lower jaw). In typical patient profile similar to bird mouth, "bird face" the mouth is not completely closed, so it is called "shark mouth"; glossoptosis (underdevelopment and retraction of the tongue) – small and dragged lower jaw can hold the tongue in the normal position, so that it flows back into hypophаrynx, squeezing the epiglottis, which acts as a valve and prevents the penetration of air, preventing at the same time both disturbed and swallow. Sometimes macroglossia observed, tongue accrete to the soft tissues of the oral cavity bottom; cleft soft palate (unilateral or bilateral cleft). These abnormalities cause respiratory distress syndrome, respiratory failure, anxiety, dyspnea with bradypnoe, permanent cyanosis; which is especially pronounced at the position of the child in the back; asphyxia during breast-feeding; swallowing difficult or impossible; vomiting over time – atrepsiya and violation of ossification. Isolated cases anomalad Pierre-Robin are always sporadic. Anomalad is part of a syndrome of multiple birth defects, inheritance is determined depending on the type of inheritance underlying syndrome. Relevant in this syndrome is to eliminate all adverse factors in the prenatal period, child development, prenatal diagnosis of medical genetic counseling to prevent the birth of a child with an inherited disease.