Patau syndrome belongs to the category of diseasesdue to the quantitative pathology of the chromosome set. This disease is characterized by the so-called trisomy - the presence of an additional thirteenth chromosome.
The chromosomal nature of the disease was firstdiscovered in 1960 by Dr. Klaus Patau, after whom it was named. The disease has another name - "Trisomy 13". Its frequency is one case for 5 - 7 thousand newborns. The disease is diagnosed with equal frequency in both sexes.
The development of this pathology is due tonondisjunction of chromosomes in the process of meiosis (the method of cell division responsible for reducing the number of chromosomes in the daughter cells). As a result of the disruption of this process, an additional thirteenth chromosome appears in the chromosome set, which is the fundamental cause of pathological changes and impaired fetal development.
To date, the chromosomal theoryheredity does not confirm that this disease can be passed on from generation to generation. It is believed that the violation of the process of chromosome division and their nondisjunction is a random event that occurred during the fusion of the genetic set of the sperm and egg at the moment of conception.
It is noted that the risk of the fetuspathology increases significantly with increasing age of the woman. In addition, there are results of studies that prove the possibility of the occurrence of this chromosomal abnormality under the action of radioactive radiation.
Many chromosomal diseases caused bynumerical anomalies of chromosomes, have quite specific clinical manifestations. Due to this, the disease can be diagnosed even without additional research - in the appearance of the newborn. Patau syndrome refers specifically to such diseases, and is characterized by multiple developmental abnormalities.
In a newborn child with a syndromePatau, the following congenital malformations are observed: craniofacial anomalies - microcephaly, narrowed eye slits, small-sized eyes, corneal clouding, sloping low forehead, sunken nose, clefts of the upper lip and palate, as well as multiple eyes, anomalies in the development of the feet.
Практически всегда у новорожденных с синдромом Patau revealed malformations of the intestine, central nervous system, kidneys, heart, genital organs. Sick children suffer from deafness, mental retardation, convulsions, muscle hypotension.
Based on the clinical manifestations thatcharacterize the syndrome of Patau, a preliminary diagnosis is made visually, immediately after the birth of the child. Ultrasound scanning allows visualization of internal malformations, and chromosome analysis confirms the presence of a quantitative chromosomal abnormality.
Usually children diagnosed with the syndromePatau, die in the first months of life due to the presence of the most severe developmental anomalies of almost all internal organs. Few of them live to the age of one. However, some patients live for several years, moreover, with appropriate care and adequate treatment, the life expectancy of such children increases to 5-10 years. However, they all tend to suffer a deep degree of mental retardation - idiocy.
As for medical care, it is usuallyaimed only at eliminating physiological problems. Usually carry out surgical correction of pathological changes in the internal organs in order to maintain the basic vital functions, as well as the plasticity of the lips and palate. The rest is shown purely symptomatic treatment, prevention of infectious and colds, careful care.
