Patau syndrome

August 12, 2017 17:52 | Genetic Diseases


Patau syndrome is a hereditary disease, the frequency of its occurrence in infants is 1 in 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 disease is polyhydramnios.

As an independent disease Patau syndrome was isolated in 1960

Children are usually born at term, full-term, and appearance resemble premature.During pregnancy, it helps find abnormal ultrasound method, which allows to identify many malformations of the internal organs.The diagnosis of chromosomal study clarifies.Patau syndrome is manifested by the following malformations.

characteristic abnormal development of brain and facial bones of the skull, -ushnye sinks are low and also twisted, sloping forehead and low, sunken nasal bridge, narrow eye slits, the lower jaw is small, underdeveloped.Skull in some cases may have a triangular shape

tion, circle skull reduced.Very often there are symmetric cleft lip and palate.

From the musculoskeletal system d

etected abnormal anatomy of the hands and feet, frequent polydactyl as on the hands and on the feet, usually symmetrical.

Pathology of the digestive system is represented by turning the unfinished bowel, bowel diverticulosis, a violation of the structure of the pancreas may be the umbilical hernia.

Pathology cardiovascular malformations presented ventricular and / or atrial septum, malformations of the great vessels, the aorta can be located on the right.

Malformations of the central nervous system are presented hypoplasia of the major brain structures may be missing or severely underdeveloped certain nerve paths, may be the lack of an eyeball, cataract, iris defect.

Developmental disorders of the genitourinary system presents: the replacement of renal tissue lots of bubbles with the liquid, dropsy kidney, imperforate or narrowing of the ureter may be a doubling of the ureter, a doubling of the uterus and vagina in girls, undescended testes in the scrotum, hypoplasia of the urethra and penis in boys.

Such a number of internal defects quickly develops mnogoorgannuyu failure.Over 90% of children die within the first year of life.But some survive up to 5 or even 10 years.Life Extension provides prompt removal of malformations, careful care, nutritious meals.Children with Patau syndrome are always persistent violations of intelligence.