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Edwards's syndrome (trisomy 18)


For the first time a trisomy on group E described J.Edwads and соавт. (1960). Frequency of a syndrome of Edwards among newborns averages 1:7000, is noticed that girls are surprised by 3 times more often than boys. By the scientist it is suggested about the stabilizing action of X-chromosome at abberation couple 18 whereas the zygotes with a trisomy 18 having a men's genotype eliminirutsya. Average age of mothers 32,5 years, fathers – 35 years.

Symptoms of the Syndrome of Edwards (trisomy 18):

Duration of pregnancy exceeds normal, and averages 42 weeks. During pregnancy diagnose weak activity of a fruit and a hydramnion. It is noted that the placenta has smaller, than usually, the sizes, only one umbilical artery often is found; many children are born in asphyxia, with very low body weight and the expressed hypotrophy.
The phenotype of patients with Edwards's syndrome is quite characteristic. The skull is dolichocephalic, with a low forehead, a nape wider and acting. Often the nanocephalia or hydrocephaly meets. Supraorbital rollers are maleficiated, palpebral fissures narrow, the epikant, a ptosis is observed, eye pathology, a microphthalmia, a coloboma, a cataract often meets. The bridge of the nose is pressed, but a ridge of the nose thin, acting, auricles are located very low, lack of a lobe and trestle is diagnosed, the curl and an antihelix are underdeveloped. Microdistoclusion is characteristic. The mouth to a meshsha of the usual sizes, has triangular shape, the upper lip is shorter than usual. The sky is high, sometimes with a crevice, a neck short, it is frequent with an alate fold.
Anomalies of a musculoskeletal system differ in a variety: expansion of a shrudny cell, shortening of a breast, a basin narrow, deformations of extremities, mobility in hip joints is limited, hip dislocations are described. Brushes and fingers short, a clinodactyly of 5 fingers of a brush, distally located, gipoplazirovanny 1 finger of a brush, the tenor is smoothed. Fingers are compressed in a fist as "fleksorny anomaly": The 2 and 5 fingers are located from above and cover the 3 and 4 fingers pressed to a palm; 1 finger of foot wide and short, syndactylia of 2 and 3 fingers. The 18th form of foot in the form of peculiar "rocking chair" is typical for a trisomy. The general hypomyotonia is characteristic. The cryptorchism, a hypospadias quite often occurs at boys; a clitoris hypertrophy at girls.
Intellectual defect corresponds to an oligophrenia in idiocy degree silt of a deep deficiency of intellect and only in single descriptions of mosaic option of a trisomy the 18th intellectual underdevelopment less rough. Quite often at the patient spasms develop.

Симптомы при синдроме Эдвардса (трисомия 18)

Symptoms at Edwards's syndrome (a trisomy 18)

Внешний вид больного с синдромом Эдвардса (трисомия 18)

Outward of the patient with a syndrome Edwards (trisomy 18)


The Dermatografichesky picture at Edwards's syndrome differs in peculiar signs: big frequency of arches on small pillows of fingers of hands is noted (about 10 times higher, than in the general population), quite often distal flexion fold on fingers is not developed, the cross palmar furrow is found in a third of patients, the pectineal account is increased, axial трирадиус is usually located distally.
At autopsy at Edwards's syndrome find various malformations practically of all bodies and systems. Anomalies of TsNS meet various frequency: aplasia or hypoplasia of a corpus collosum, cerebellum hypoplasia, atrophy of gyruses. Heart diseases are diagnosed for 95% of patients with a trisomy 18 and large vessels, defect of an interventricular partition and a patent ductus arteriosus most often meet. About a half of all cases of a syndrome of Edwards is followed by anomalies of digestive organs: disturbance of an arrangement of intestines, меккелев diverticulum, gullet atresia, anus atresia. In 50% of cases malformations of urinogenital system – a lobular or fused kidney, duplication of ureters, a hypoplasia of ovaries are noted.
At cytogenetic inspection in 80% of cases find a trisomy 18, at 10% of patients – a mozaytsizm. Cases of translocational option, a double aneuploidy of type 48, HHU +18 with participation of the 18th clone, trisomny on a chromosome, are described.

Treatment of the Syndrome of Edwards (trisomy 18):

There is no pathogenetic treatment of a syndrome of Edwards today, only symptomatic correction of pathologies is possible. The forecast for life adverse, average life expectancy of boys 2-3 months, girls – 10 months. 30% of patients die within 1 year of life, about one year only 10% of patients live. At mosaic options the forecast for life is slightly better.

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