The concept of Patau syndrome
Patau syndrome - a chromosomal disorder characterized by the presence of more cells in the thirteenth chromosome.
Trisomy (availability of extra chromosomes) firstdescribed by Erasmus Bartholin in 1657. Chromosomal nature of the disease revealed Dr. Klaus Patau in 1960. The disease is named in his honor. Patau syndrome has also been described for the tribes from the Pacific islands. It is believed that these cases were caused by radiation poisoning, emerged as a result of nuclear weapons testing in the region.
The main symptoms of the disease
A typical complication of pregnancy in gestation with Patau syndrome is polyhydramnios: it is found in almost half the cases of Patau syndrome.
Patau's syndrome have severe birth defects. Children with Patau syndrome are born with a birth weight below the norm (2500 g). The main manifestations of the disease:
- moderate microcephaly (reducing the size of the brain)
- breach of various parts of the central nervous system
- low sloping forehead
- eye slits narrowed the distance between them is reduced
- microphthalmia (small size of the eye) and coloboma
- sunken bridge and broad base of the nose
- deformed ears
- cleft lip and palate
- polydactyly (increasing the number of fingers)
- bull neck
Most newborns are found defectsof heart -. interventricular defects and atrial walls, transposition of vessels and others observed Fibrocystic change of the pancreas, extra spleen, fetal umbilical hernia. The kidneys are enlarged, have increased lobed structure and cysts revealed malformations of sexual organs. For Patau syndrome is characterized by mental retardation.
In connection with severe congenital malformations, most children with Patau syndrome die within the first weeks or months of life.
However, some patients live forseveral years. Moreover, in developed countries there is a trend of increasing life expectancy of patients with Patau syndrome and 5 years sometimes even up to 10 years. The remaining children alive suffer profound idiocy.
The decisive factor in diagnosis isstudy of chromosomes. Cytogenetic study shows, in all cases, including those from deceased children. The exact cytogenetic diagnosis is essential for forecasting future health of children.
Treatment of the disease
Modern medicine does not yet have the possibility ofcorrect chromosomal abnormalities. Integrated team work of various specialists is constant monitoring of the patient's state of health and psychological support for the family.