Syndrome Patau
Patau syndrome is a hereditary disease, the frequency of its occurrence among newborns is 1 per 5000-7000.The ratio of boys and girls in this disease is 50 to 50%.Quite often, in 50% of cases, a complication of pregnancy with this pathology is polyhydramnios.
As an independent disease , the Patau syndrome was isolated in 1960.
Children are usually born on time, full-term, and in appearance resemble preterm. During pregnancy, the ultrasound method helps to find pathology, which helps to identify many developmental defects from the internal organs. The diagnosis is refined by chromosome research. The Patau syndrome is manifested by the following developmental defects.
Characteristic abnormal development of the bones of the cerebral and facial skull, the auricles are located low and also deformed, the forehead is oblique, low, the sunken bridge of the nose, the eye slits are narrow, the lower jaw is small, underdeveloped. The skull may in some cases have a triangular shape, the circumference of the skull is reduced. Symmetrical clefts of the upper lip and palate are very common.
The musculoskeletal system reveals an abnormal anatomical structure of the hands and feet, often there is a lot of malleability, both on the hands and on the feet, more often symmetrical.
The pathology of the digestive system is represented by an incomplete bowel turn, diverticulosis of the intestine, a disorder of the pancreas structure, there may be a hernia of the umbilical cord.
The pathology of the cardiovascular system is represented by the developmental defects of the interventricular and / or atrial septum, the developmental defects of large vessels, the aorta can be located on the right.
The developmental defects of the central nervous system are represented by the underdevelopment of the basic brain structures, some nervous pathways may be absent or may be greatly underdeveloped, there may be an absence of the eyeball, a clouding of the lens, an iris defect.
Disorders of the development of the genitourinary system are represented by: replacement of the renal tissue with a number of vesicles with fluid, dropsy, infection or narrowing of the ureter, doubling of the ureter, doubling of the uterus and vagina in girls, undescended testicles in the scrotum, maldevelopment of the urethra and penis in boys.
This number of internal defects quickly develops a multi-organ failure. More than 90% of children die within the first year of life. But some live up to 5 and even up to 10 years. Prolonged life is provided by prompt elimination of developmental anomalies, careful care, and adequate nutrition. Children with the Patau syndrome always have persistent mental disorders.