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Patau's syndrome (trisomy 13)


This syndrome in 1960 is described, connected with disturbance of the 13th chromosome. Patau's syndrome occurs among newborns in the ratio 1:7000. There are no reliable differences on occurrence frequency among men's and female. Almost in 50% pregnancy is complicated by a hydramnion. The body weight of the newborn is much lower than norm at normal duration; quite often in labor asphyxia is noted.

Symptoms of the Syndrome of Patau (trisomy 13):

The clinical picture is typical: a mikrotsefalny skull with a low sloping forehead, the pressed temporal areas and defects of skin are observed. Turn on themselves narrow palpebral fissures, are located horizontally, the eye gipotelorizm is characteristic. Eye pathology is noted: microphthalmia, colobomas, opacification of a cornea. The nose is flat, wide, with the sunk-down bridge of the nose and the stupid involved tip. Low located auricles are combined with small lobes of ears which are pressed to the head. Curls of irregular shape, trestle гипоплазирован. Maldevelopment of a kortiyev of body quite often causes deafness.
One of frequent signs of a syndrome is the crevice of an upper lip and the sky. From a musculoskeletal system take place a polydactylia, fleksorny provisions of brushes with a peculiar position of fingers: 2-4 are bent, brought to a palm and are blocked by a thumb and a little finger. Very often umbilical and inguinal hernias, anomalies of external genitals are found: a cryptorchism, a hypospadias, a hypoplasia of a scrotum and a penis at boys, a hypertrophy of a clitoris and vulvar lips at girls. At children reveal deep mental retardation, they sharply expressed a motor underdevelopment, the convulsive syndrome quite often meets.
At a pathoanatomical research the set of defects of development practically of all systems of bodies is found. The mass of a brain is less than norm, there are no olfactory bulbs and paths, the brain is often not divided into hemispheres, there is a hypoplasia of frontal lobes and a hiazma of an optic nerve, a cerebellum, a corpus collosum agenesia, hydrocephaly. Almost always reveal anomalies of heart and vessels: are frequent defect of interventricular and interatrial partitions, the patent ductus arteriosus, and also pathology of the valve device, a stenosis of a pulmonary artery is diagnosed. At a half of patients with Patau's syndrome register malformations of kidneys  of urinary tract: cystic kidney, hydronephrosis, dysplasia of kidneys, doubling of kidneys, etc. Various defects and anomalies of an arrangement of digestive organs meet the same frequency: anomalies of turn of intestines, mesentery pathology, Mekkel's diverticulum, changes of a pancreas in the form of fibrocystic process. At 50% of girls find doubling of a vagina and a two-horned uterus.

Внешний вид ребенка с синдромом Патау (трисомия 13)

Outward of the child with a syndrome Patau (trisomy 13)

Diagnosis of the Syndrome of Patau (trisomy 13):

Dermatografichesky changes consist in a cross palmar fold, a distal arrangement of an axial triradius, the increased frequency of radial loops and arches generally on a hand thumb, increase in frequency of patterns on the tenor is diagnosed.
The cytogenetic research reveals a regular trisomy of a chromosome 13 in 80% of cases. In other cases various forms of a mozaytsizm with participation of a trisomny clone, translocation of usual type t are noted (13qDq). The described cases of a partial trisomy 13 are a consequence of pericentric inversion or balanced translocation at parents more often.
If at a mozaytsizm the same phenotypical signs meet generally, as at a "regular" trisomy, then manifestations of an incomplete trisomy of a chromosome 13 differ from a tipchny syndrome of Patau depending on what site is in trisomny situation.

Дерматографические изменения при синдроме Патау (трисомия 13)

Dermatografichesky changes at Patau's syndrome (a trisomy 13)

Treatment of the Syndrome of Patau (trisomy 13):

The medical help with Patau's syndrome nonspecific: according to vital indications perform operations for inborn malformations, fortifying treatment is necessary. Sick children demand careful leaving, it is necessary to carry out prevention of catarrhal and infectious diseases. Children with Patau's syndrome practically always have a deep idiocy.
The forecast for life at Patau's syndrome adverse, average life expectancy of 130 days: 60% of all patients die in the first 3 months after the birth, only 10% of all children live longer than year.

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