Abnormal deformities. The most unusual people on the planet: anomalies and catastrophes of the body - maryikina closet

The human body grows and develops in accordance with the genetic program that is embedded in DNA. This molecule is made up of genes through which protein is produced. It serves as a building material for all life on Earth. Each gene, to put it simply, is responsible for a particular organ. These are the heart, kidneys, liver, brain, and skeleton. etc. All of them begin to grow and develop in the womb maternal organism. At the same time, the process of their development follows a well-established scheme.

Genes scrupulously adhere to a certain program, direct cell division, and, in the end, a small person is born. He has a head, arms, legs, eyes and other organs necessary for normal life. Very often, beautiful men and women with ideal body proportions grow out of children. Such bodies are pleasing to the eye and cause a feeling of admiration. Humanity owes all of this to DNA.

It would seem that a monument to this molecule, which gives people the joys of life, should be erected. But do not overpraise the complex biological design. She's not as perfect as she seems. Sometimes a systemic failure occurs in the molecule, and the development of individual parts of the body deviates from the given programs. In this case, creatures appear in the light of God, absolutely not similar to the surrounding people. Freak people - that's what they've been called since time immemorial. Physical abnormalities bring incalculable suffering to freak people, but it is impossible to help them. Science still has very little knowledge to correct the work of genes on its own.

So perfect human bodies are born thanks to the precise work of DNA

From this we can conclude that the Higher Mind, which invented DNA at one time, was by no means distinguished by conscientiousness and responsibility. These guys obviously cheated and did such a responsible job in bad faith. A person can only state the facts of ugliness and meekly demolish the marriage of hacks.

Calms only the thought that it is for the time being. Genetics will soon go far ahead, and people will eventually learn to correct the flaws of others. Our descendants may even get to the Higher Mind. They'll kick these guys' ears or take off their belts and unfasten them in a fatherly way in soft places. But this is a matter for the future, but we will turn to the past and talk about the clearly expressed ugliness, which has always aroused in people a feeling of great curiosity mixed with compassion.

hairy people

Doctors call increased hairline on the body "hypertrichosis". This is when a person is covered from head to toe with hair. They do not grow only on the palms of the hands and soles of the feet. It is especially unpleasant when lush vegetation covers the face. by the most famous person with such ugliness was Jo-Jo. He was born in St. Petersburg in 1868. His name was Fedor Evtishchev.

Jo-Jo or Fedor Evtishchev

Due to hairiness, the boy from an early age performed first in Russian, then in French circuses. In 1884, the famous American showman Phineas Taylor Barnum (1810-1891) drew attention to him. The young man went to America and received the pseudonym Jo-Jo. He traveled all over the states, acting as a humanoid dog. The cunning showman told everyone that he was born by a woman who became pregnant from german shepherd. Fedor died in 1904 from pneumonia while on tour in Europe.

Freak people are not only among men. A terrible and terrible burden falls on the fragile female shoulders. An example of this is the Puerto Rican Priscilla Loter. The Loters themselves lived in the United States. They adopted the girl in 1911, paying decent money to her parents. The entire body of the child was covered with long black hair. On the face, only the nose, cheeks and forehead were devoid of vegetation. For the Loters, who worked in the field of circus attractions, the ugly girl was a real find.

Priscilla with her adoptive father Karl Lauter

In addition to hairiness, Priscilla had two rows of teeth growing in her mouth. However, that didn't bother her at all. The ugliness did not affect the intellect either. The child was exceptionally smart. He was a wild success with the audience. Respectable in all respects, Karl Loter, before Priscilla's performance, sincerely assured the audience that she was born by a woman who had an intimate relationship with a great ape. Of course, the master was a little cunning, but it was necessary to somehow stir up the interest of the satiated public. In confirmation of the invented “legend”, Priscilla performed on the circus stage only with monkeys.

One very rich and eccentric American woman wanted to adopt a girl. She cherished the dream of crossing her with a monkey. But the Loters were not tempted by a large amount of money and refused the lover of exotic experiments. Priscilla married a circus performer who also had a deformity. The young man's skin on his body was covered with large scabs, and he portrayed an alligator in front of the audience. God did not give this couple children, but they lived a long and happy life together.

Giants and dwarfs

History knows quite a few people with very small and large stature. These are also freak people, since they turned out like this as a result of a genetic failure. In the old days, all monarchs kept dwarfs in their courts. It was believed that shorties and midgets bring good luck. For more than a thousand years, this public has enjoyed a favorable situation. Near the royal table they lived quite well. If they still knew how to make laugh, then they became favorites of the reigning persons. The most famous of all dwarfs is Geoffrey Hudson.

The shorty was eaten at the court of the English king Charles I (1600-1649). His height was only 75 cm in adulthood. As a child, he was less than 15 centimeters, so he was often put in a large cake and served at the table. The guests surrounded the confectionery miracle, and then a tiny man jumped out of it, like a devil from a snuffbox. For those who didn't know, it had a tremendous effect.

Little people in a big world

Geoffrey was very fond of the Queen. Naturally, the kid enjoyed it. He behaved boldly and defiantly with the courtiers. One day, the dwarf considered himself offended by the marquis and challenged him to a duel. The kid had his own sword. It was made to him by order of the queen. With this miniature weapon, Geoffrey managed to wound the Marquis several times in the thigh, before the soldiers arrived in time to separate the brawlers.

No less popular are freak people of enormous stature. Ancient historians call startling figures. For example, the same Goliath had a height of 2 meters 90 centimeters. Many researchers who adhere to the alien version of development human civilization, believe that Goliath was no Philistine, but a representative of an alien race. So be it, but besides Goliath, there are enough other giants who are in no way inferior to him in size.

You can call Orestes, whose growth reached 3 meters. This is the son of Agamemnon and Clytemnestra - the sister of Helen the Beautiful, because of which the Trojan War broke out. Here the alien version will no longer crawl through, since sister The giant was Iphigenia. The one beautiful girl, which they wanted to kill to appease Artemis. The growth of the young creature did not stand out among other girls. Thus, if Orestes is an alien, then why is Iphigenia so small?

Let's leave ancient Greek mythology on the conscience of historians and turn to the ancient Romans. They, too, could boast of huge freak people. Judging by the memoirs of Josephus Flavius ​​(37-100), who wrote the famous work "Jewish War", very tall slaves lived in Rome. Among them, one named Eleazar stood out in particular. His height reached 3 meters 30 centimeters. But this giant was no different physical force. He was long and thin. But I ate for three. In the competitions of inveterate eaters, Eleazar always won everyone.

It's believed that high growth directly depends on the bones of the legs. The longer the legs, the taller the person. At the same time, the length of his body is not much different from standard sizes. Giants rarely have great physical strength. The real athlete was a giant named Angus MacAskill. He was born in Scotland in 1825. Until the age of 13 it was ordinary child. Then he began to grow rapidly. At the age of 21, his height was 235 cm with a weight of 180 kg. It was a mountain of muscle without a single ounce of fat.

Naturally, a huge strong man performed in the circus, while earning good money. He lifted weights, striking the audience with incredible strength. But there is a hole in the old woman too. MacAskill once made a $1,000 bet that he would raise sea ​​water ship anchor. He weighed almost 900 kg, but the money was very good, and the mighty giant got down to business. The giant lifted the anchor, but at the same time injured his spine. I had to quit the circus. Already an invalid, Mac-Askill went to his homeland, where he died in 1863.

Robert Wadlow with his older brother

by the most tall man on the planet in the entire history of civilization is officially considered Robert Wadlow. This is an American who lived in Mississippi. He died at the age of 22 in 1940. The young man weighed 220 kg with a height of 267 cm. The cause of death was not high growth at all, but a banal blood poisoning. The guy cut his leg, which led to an untimely death.

Fat people are freaks

Fat people also belong to freak people. But not ordinary fat people, but immensely fat personalities. For them, elementary physical actions are a whole problem. Even to walk around the room, fat people need to make a lot of effort. The American Robert Earl Hughes belongs to this company. He lived in Indiana, and left the mortal world in 1958. His weight was 468 kg with a height of 178 cm.

This man could not move. In order to sit, a special chair was made for him. He slept on a special bed. Its frame was welded from steel corners. The mattress was placed on a steel sheet welded to the corners. When Robert was taken to the hospital, they had to order a crane and a loader. The cause of his death was overweight, which is not at all surprising.

Fat freak people were not uncommon in other states of America. A similar situation was observed in Johnny Ali, who lived in North Carolina. He was born in 1853 and at first was no different from other children. When the boy was 11 years old, he just had a wolfish appetite. The child began to rapidly gain weight. By the age of 15, he could no longer pass through the doorway to leave the house on the street. At the age of 16, the young man switched to a reclining lifestyle.

All the time he spent at home, sitting in a special chair. He slept in it, because he simply could not get over to the bed, and the family were not able to drag the huge body back and forth. The weight young man reached 509 kg. This data was obtained after Johnny died. During his lifetime, no one weighed him, so as not to create unnecessary problems for himself.

A young man died in 1887 at the age of 33. The reason for this was elementary human stubbornness. Johnny tried to get up from time to time so as not to feel completely flawed. So this time, he managed to lift his huge carcass from the chair and went to the window of the room to admire the world around him. The floorboards could not withstand the enormous weight. The floorboards broke and the poor man fell down. There was a cellar under the room, but Johnny didn't fall into it. He was stuck in the hole, legs dangling helplessly.

Relatives and neighbors hastily began to build a wooden platform so that the fat man could lean on him with his feet. But while people were working, the young man could not stand all the upheavals and died. A huge body was pulled out of the basement with the help of horses. At the funeral, artiodactyls and special blocks were also used to lower the coffin with the deceased into the grave.

Freak people with two heads

Such people-freaks also occasionally appear in the world, introducing eyewitnesses of this phenomenon into a state of superstitious horror. In 1953, a two-headed baby was born in Indiana. He lived for several weeks. One of the heads was completely normal. The other had a mouth, eyes, ears, but there were no glimmers of intelligence on her face. The heads grew from one body, but each moved, slept and ate independently of the other.

Much earlier, in 1889, also in the state of Indiana, a creature was born that, in official medicine known as the Jones twins. They had a common body, but their heads were directed towards opposite sides. The "twins" had 4 legs, and each two fused with each other. The body had two arms. It gave the impression that right hand obeys the orders of one brain, and the left - the other. The Jones twins died in 1891.

Baby with two heads

In 1829, a freak with two heads was born on the island of Sardinia. Each head "sat" on a long neck. The body was common with two arms and legs. Parents gave the child the name Rita-Christina. The family lived very poorly, so the father and mother took the two-headed creature with them to Paris and began to show it to the curious public for money.

It all ended with the fact that the authorities banned such an immoral event. Parents left Rita-Christina in the winter in an unheated room and went home. The child very soon died of hunger and cold. Doctors opened a small body and made sure that, apart from two heads, there were no more paired organs in it. The skeleton of the unfortunate child is still kept in Paris today.

History knows a man with one head but two faces. it Edward Mordrake. He lived in the 19th century and was a representative of an aristocratic English family. His second face was located at the back of his head. It had muscles, so it could smile, frown, and even laugh. But most of the time, the face bore the stamp of gloomy doom. The owner of two persons could not bear such a burden that weighed on his psyche. He went insane and ended up in a psychiatric hospital.

Freak people with one eye

The first one-eyed people are the Cyclopes. Their only eye was located on their forehead. We know about this from ancient Greek mythology. Whether these freak people actually lived on earth or not is unknown. But medicine is well known to a Negro named Nikolos. He lived in the first half of the 20th century in Mississippi. In the center of his forehead was the usual size human eye. There were no eye sockets, as such. These places were absolutely flat, covered with leather. Eyebrows grew, like all normal people.

Representatives of the circus business promised this man fabulous money. But he never went out circus arena. Nikolos ran a farm and tried to avoid people. He felt comfortable only among animals. Nikolos was very fond of dogs, which were up to the lantern that their owner had one eye. The one-eyed American did not start a family and died quietly alone in the 60s of the last century.

Conclusion

Thus, it is clear that the DNA molecule from time to time "gives out on the mountain" amazing biological masterpieces. Freak people amaze humanity with their appearance, while experiencing inexpressible mental suffering. Even if they earn a lot of money performing in the circus, this is hardly a moral consolation for them. Many of them would agree to live in poverty, but have a normal human appearance.

Nowadays, when the environment leaves much to be desired, abnormal deviations in people are becoming more common. These are no longer flaws in the work of the Higher Mind, but the irresponsible activities of individual representatives of the human race. So it is still unknown who needs to be "given a belt" - to the mysterious humanoids who invented DNA, or the owners of huge corporations, gradually and steadily turning human race into creepy mutants.

The article was written by Alexey Zibrov

Birth injuries of a child (dislocation of the shoulder, hip joints, hematomas, etc.) are those health problems for the baby that arise due to pathological difficult childbirth, and also - as a result of errors of medical personnel and (or) incorrect behavior of the mother during childbirth, etc.

Pathologies of newborns are deeper, often not immediately diagnosed health problems for the baby. The causes of problems of this kind can be chromosomal malformations of the fetus, damage to the central nervous system, violations in the formation and development of individual organs and systems. If we consider the pathologies of newborns in terms of the causes of their occurrence, then we can divide them into two categories. large groups: genetically determined and acquired. Consider the most typical cases from each group.

Chromosomal pathology of the fetus

Down syndrome- one of the most frequent pathologies newborns, which, unfortunately, tends to increase the number of cases. It is impossible to predict (and even more so - to take measures for prevention) this pathology of newborns. Scientists still cannot say why perfectly healthy parents give birth to a child with an extra chromosome. But it is possible to diagnose Down syndrome already in the first half of pregnancy. For this, a pregnant woman needs to undergo genetic screening in a timely manner. What to do with the information received about what is not yet born child Down syndrome is a personal decision for every woman. But you need to know about it.

Shereshevsky-Turner disease- pure female disease, which is usually diagnosed at 10-12 years of age. People with this disease lack one X chromosome. infertility and mild mental retardation- satellites of this chromosomal pathology.

Klinefelter's disease- the problem of men, in the karyotype of which 47 chromosomes are found - 47, XXY. The main manifestation of this disease is very high growth and infertility.

In addition to these diseases, there are a number of diseases that are caused by chromosomes. Thank God they don't happen often.

How to avoid chromosomal pathologies in newborns?

There are two ways to do this: consultation with a geneticist before pregnancy and strict (!) adherence to the timing of genetic screening during pregnancy. Keep in mind: genetic research pregnant women are informative only at a strictly defined gestational age! If you miss these deadlines, you get wrong answers.

"Acquired" pathologies of newborns

Doctors of all specialties who observe pregnant women do not get tired of talking about what their “ interesting position» women should:

a) prepare, that is, at least undergo an examination for the presence in the body various infections, consult a geneticist, give up bad habits in advance.

b) treat pregnancy with all responsibility: visit the doctor on time and do everything necessary tests strictly follow his recommendations.

What is the risk of breaking these rules? "Only" the occurrence of neonatal pathology varying degrees gravity. Let's consider the main ones.

Violation in the formation of individual organs. This pathology of newborns can occur literally anywhere in the child's body. The "weak link" in the baby's body can be his heart, kidneys, lungs, organs of vision. Pathologies in the development of limbs are possible (extra fingers, for example), etc. The reasons for this in the vast majority of cases are the impact on the body of a woman of the harmful factors of the "outside world". And the habit of pointing at the environment, over which we have no control - is very bad. Alas, in the vast majority of cases, “thin spots” in a child’s health are laid by mothers. Nicotine, alcohol, stupid drug use, etc. - every woman who dreams of a child needs to clearly understand what she is doing when she brings a cigarette or a glass of wine to her mouth.

It happens otherwise: sometimes the pathologies of newborns are due to hereditary factors or really unpredictable "whims" of nature. Is it possible to help the child in this case. Yes. Definitely yes! For example, modern medicine performs unique heart surgeries on children literally in the first hours after their birth. But doctors must be prepared for the birth of such a child. Don't skip doctor visits during pregnancy! Let the doctors diagnose the problem in time and save the child's life.

Perinatal cerebral hypoexcitability. The main causes of this type of neonatal pathology are chronic oxygen starvation child during pregnancy, intrauterine infection of the fetus, as well as birth trauma.

Characteristic symptoms of hypoexcitability: low muscle tone of the child, general lethargy, drowsiness, unwillingness to breastfeed, lack of crying or its extremely low severity. Such children usually make a frightening impression on mothers, but you should not worry in advance: in the vast majority of cases, this type of neonatal pathology is corrected during the first few years of life (and sometimes even earlier). Treatment can be very different: both medication and physiotherapy, depending on the severity of the manifestations.

Perinatal cerebral hyperexcitability- a problem, to a certain extent, the opposite of the previous one. The limbs of children born with this pathology are usually very tense, chin trembling is often observed. Children often cry for a long time, later they are hyperactive, they are characterized by an unstable psyche.

This pathology of newborns in the vast majority of cases is also not very serious and is successfully eliminated in early childhood.

Hypertension-hydrocephalic syndrome occurs due to increased intracranial pressure. A symptom characteristic of this type of neonatal pathology is an increased volume of the head, bulging of the fontanel, and a disproportion between the facial and cerebral parts of the skull. The behavior of children suffering from hypertensive-hydrocephalic syndrome is very different. Children can be both frighteningly lethargic in their life manifestations, and painfully active. AT severe cases perhaps a pronounced lag in development.

How to help a child with neonatal pathologies

Extremely important early diagnosis these problems! Preferably during pregnancy. And it is absolutely necessary - soon after the baby is born! If you notice something wrong with your child, do not hide it from the doctor: the sooner the problem is diagnosed, the greater the chance of success.

And congenital non-hereditary.

Congenital hereditary developmental anomalies

As a result of many years of research in Russia and abroad, it has been established that about 20% of all congenital anomalies development (malformations) are hereditary and appear during the period of embryonic development of the fetus from parents with abnormalities in chromosomes and genes. About 10% of anomalies are caused bad habits and the use of certain substances (alcohol, drugs and certain drugs), poor ecology, and for the remaining 70% of deformities, the causes have not been established.

Every woman wants to give birth to a healthy and beautiful child. In order to avoid congenital malformations, it is necessary to know the causes of their occurrence.

Currently, hundreds of chemical reagents have been identified that can cause damage to chromosomes or genes in parents and provoke intrauterine malformations of the fetus.

Anomalies of development can be different: the complete absence of any organ (for example, the kidney), underdevelopment of the organ (its small size and mass), too much development of the organ (for example, too large size and mass of the brain - macrocephaly). In all cases, these deviations adversely affect the physical and mental development of the child, and often lead to his death.

In addition, the structure (narrowing of the intestines, esophagus, underdevelopment of heart valves, etc.), the shape and number of organs (for example, a decrease or increase in the number of fingers and toes, the appearance of extra internal organs, such as an extra kidney and etc.) or an insufficient number of paired organs (for example, one eye or one kidney).

The result of these deviations is early infant mortality (up to 20% of all infant deaths). It is noted that in recent years the percentage of intrauterine fetal anomalies has been steadily increasing.

Not all childhood developmental anomalies appear at an early age. Some of them appear only at the time of puberty or later.

In addition, anomalies can manifest themselves in a metabolic disorder of the child - in the absence of any enzyme, etc.

All violations prenatal development the child is conditionally divided into 5 groups: anatomical, physiological, functional, biochemical and mental.

Of all the violations of intrauterine development of the fetus, the most dangerous are diseases associated with a violation of the structure of chromosomes or their number in cells. Most of these anomalies lead to fetal death or the birth of a non-viable child.

Down syndrome

This is the most common hereditary disease (about 1 in 800 newborns). It is a consequence of a violation of the number of chromosomes in cells (instead of 46 chromosomes, a child has 47 chromosomes in the genotype). This disease affects both girls and boys.

Most often, a child with Down syndrome is born from an elderly mother or father (over 40 years old). This syndrome is found in early stages pregnancy using ultrasound and other methods, but the accuracy of the examination is 95% (the remaining 5% is an erroneous diagnosis). To date, the most accurate diagnosis this disease (up to 99.8%) gives a study of amniotic fluid. If this pathology is detected in the fetus, the parents themselves have the right to decide whether to leave this child to them or not.

Characteristic external signs of Down syndrome: a fold in inner corner eyes, flat face and back of the head, small nose, large tongue, open mouth, short neck and skin fold on the neck, shortened limbs and fingers, muscle weakness, there may be strabismus. These children also have heart defects and duodenum, mental retardation.

Expectant mothers need to know that before having an abortion when a child has Down syndrome, you need to think carefully. Such children are very affectionate, kind, and the degree of their dementia varies greatly. At present, such children, although more slowly than healthy children, can be taught by special methods. They begin to walk, talk, read and write. People with this disease marry and live to old age, but such people need to keep in mind that the likelihood of developing this syndrome in their children increases to 50%.

Edwards syndrome

This is the second most common hereditary disease after Down's disease associated with the presence of an extra chromosome in the cells. With this disease, the fetus develops multiple defects. Most often, this syndrome occurs in children born to elderly mothers, mainly in girls. Such a child has a violation of the size of the bones of the skull, sternum, foot, body proportions. In addition, there may be no external ear canal have heart defects and blood vessels, anomalies in the development of the brain, cerebellum and mental retardation. These children, as a rule, are not viable and die before the age of 3 months, rarely - before 1 year. Very rarely, such children live longer, but they are all oligophrenics (mentally retarded).

Klinefelter syndrome

This is a fairly common hereditary disease caused by a change in the number of chromosomes. This syndrome develops only in boys born to elderly mothers. This disease manifests itself only during the period of puberty of the child; he has an underdevelopment of the testicles, there are no or a reduced number of spermatozoa in the semen, infertility develops. The external development of the boy according to female type: narrow shoulders, wide pelvis, long legs, enlarged mammary glands. Mental and intellectual deviations can be noted. If the first signs of this disease are found, you should immediately consult a doctor to start treatment (most often hormonal).

Hemophilia

This hereditary disease is transmitted to the child from the mother. This disease appears only in boys. With hemophilia, blood clotting is impaired. With appropriate treatment, this disease is not a sentence.

cystic fibrosis

This is the most common hereditary systemic disease.

Cystic fibrosis affects the respiratory and digestive systems, as well as the liver, pancreas, and sex glands. In the body in large quantities mucus builds up agonizing cough, wheezing in the lungs, the heart is affected, the pancreatic ducts are clogged, diarrhea is replaced by constipation, the stomach is swollen, children grow poorly and gain weight, limbs are thin, with characteristic form fingers, deformed chest, skin tastes salty (if licked). The mental development of such patients is normal, and sometimes even above average. It's heavy congenital disease Currently, it is not completely cured, but with proper maintenance therapy, such patients can live a long and full life. They must receive certain medications for life.

Phenylketonuria

This disease is a consequence of a violation in the child of the exchange of the amino acid phenylalanine, as a result of which there is a delay in his physical and mental development. This disease is detected in the first days of a child's life. It is not a judgment. When appointed special diet the development of this disease can be prevented.

color blindness

This hereditary disease is transmitted from mother to son and manifests itself in the fact that the child does not distinguish between some colors (that is, color vision is partially impaired), most often red and green. This disease has no cure.

"Hare Lip"

This developmental anomaly lies in the failure of upper lip that interferes with the baby's suckling. Treatment - surgical, in the first months of a child's life. This deformity can be provoked by a lack of food in a pregnant woman.

"Cleft palate"

This is non-fusion upper jaw and hard palate, as a result of which the oral cavity is not separated from the nasal cavity. This defect causes food to enter the windpipe and nasal cavity. Very often, the cleft palate is observed in conjunction with the cleft lip. Treatment - surgical. The reason for this anomaly in the development of the child may be a lack of food in a pregnant woman.

Polydactyly

Polydactyly - the presence of extra fingers or lack of them on the hand or foot, fusion of fingers together, shortening or absence of limbs. Surgical treatment and prosthetics.

Anencephaly, microcephaly, hypercephaly and hydrocephalus

All these are anomalies in the development of the brain. These developmental anomalies can be provoked by a deficiency in the body of a woman or rubella, measles and some other diseases suffered by the mother during pregnancy (especially in the first weeks after conception).

If anencephaly (lack of cerebral hemispheres) is detected in a child, the pregnancy is terminated at any time.

Fusion of twins (so-called Siamese twins)

This is one of the most severe anomalies of intrauterine development of the fetus. Twins can be connected by some part of the body (pelvis, head, etc.), their circulatory and other organ systems can be isolated or connected, one twin can be developed normally, and the other is underdeveloped. These children usually die in early age. With fusion only with soft tissues and with the independent functioning of each child, the treatment is surgical.

Umbilical and spinal hernias

Hernia of the navel is an exit from the cavity under the skin of the intestine. Such hernias can go away on their own, in severe cases, surgical treatment.

Spinal hernias are the most severe fetal malformations. Most of the children suffering from these malformations die, and paralysis is noted in the survivors, therefore, if such fetal developmental defects are detected, premature termination of pregnancy is indicated.

Malformations of the heart and blood vessels

The cause of these fetal malformations may be a viral or bacterial disease transferred by the mother during pregnancy, as well as a lack of oxygen.

These heart defects, depending on their severity, are treated medically or surgically.

In severe cases, the child dies in utero or immediately after birth.

All anomalies in the development of the fetal skeleton are due to gene or chromosomal disorders in the cells of the unborn child.

In addition, other hereditary diseases are very rare (Hirschsprung's disease, Huntington's disease, Ponter's disease, Willebrand's disease, Tay-Sachs disease, Fraser syndrome, Patau syndrome, Turner's syndrome, marble disease, and many others). Developmental defects also include various birthmarks, some congenital skin diseases, congenital hip dislocation, craniocerebral hernia and others.

Currently, more than 3.5 thousand hereditary developmental anomalies are known. It has been established that more than 5% of all children born are born with various pathologies.

All considered chromosomal and gene hereditary diseases are practically independent of the external environment.

by another group hereditary diseases are those to which the child has a hereditary predisposition, but clinically this disease manifests itself only under certain environmental conditions. These diseases include: diabetes mellitus, psoriasis, stomach ulcers, hypertension, gout and some others.

Some of the hereditary diseases appear only in old age (for example, Alzheimer's disease, atherosclerosis, gout).

If relatives in your family had various serious hereditary diseases, special medical genetic examinations must be completed before conceiving a child.

The risk of developing a hereditary disease and various deformities of the child in closely related marriages increases many times over.

No need to be scared: the considered congenital hereditary diseases are very rare (most often 1 child in several thousand births). Each future mom From the first days of pregnancy to the very birth, she worries about how her baby will be born, whether he will be healthy.

The description of all these malformations is not given to intimidate you, but to make you understand that the health of your baby is almost completely dependent on you.

If you eat right, and your unborn baby receives all the substances necessary for his life and development (proteins, fats, carbohydrates, vitamins, especially folic acid, and mineral salts), the probability of having a sick child is negligible.

For proper cell division, including at the stage of the embryo, the formation and growth of all internal organs, the metabolism of the fetus, its hematopoiesis, folic acid is necessary; in addition, it prevents premature birth and throw out. In addition, if you lead the right lifestyle, do not smoke, do not use drugs and alcohol, your genetics do not have serious hereditary diseases, then there is practically no risk of having an unhealthy child, and you can be calm about your future baby.

If your relatives have any disease that is inherited, you need to be examined by a doctor and start timely treatment to prevent this disease or to terminate the pregnancy in a timely manner in especially severe cases. It is necessary to refrain from pregnancy for women over 40 years old.

On the present stage development of medicine, most of these developmental anomalies are detected in the early stages of pregnancy.

The most important thing for maintaining the health of the mother and the unborn baby is to register at the antenatal clinic as early as possible, visit it regularly and follow all the prescriptions of your doctor.

As a rule, in most cases, there are healthy babies. But it also happens that a child is born with pathologies, which causes concern and anxiety for parents. We will figure out what are the most common pathologies of newborns.

There are a variety of anomalies in the development of the fetus, which are almost impossible to list. But there are pathologies that are more common than others, and we will talk about them.

Inguinal and umbilical hernia

The incidence of dysplasia in newborns is quite high.

If the baby is born with congenital dislocation hip, then the doctor repositions it, and then, at least for several months, imposes special fixed orthoses - stirrups. If this is not enough, then the child may be shown an operation. Fortunately, in most cases it is possible to cure dysplasia quickly enough without surgery.

hare lip

This congenital defect is manifested by external deformity, problems in the nutrition of the newborn and the development of speech, but the general psychosomatic development of the child usually does not suffer from this.

Fortunately, today cleft lip is not an unrecoverable problem - in the very first few weeks, the crumbs undergo an operation that will remove this defect.

Cleft palate

This congenital deformity, which is a splitting of the tissues of the hard and soft palate, in which there is communication between the oral and nasal cavities. This is a rather rare pathology with which 0.1% of newborns are born in the world.

This defect is also fixed surgically. If the operation is carried out qualitatively, appearance the child will not be significantly affected - there will be a few inconspicuous thin scars.

Polydactyly

This is a pathology in which an extra finger is present on the arms or legs of a newborn child. The frequency of such an anomaly is very high - about every three hundredth crumbs.

This defect is eliminated very quickly - the simplest surgical operation, which lasts only a few minutes, a small rehabilitation period, and there will be no trace of an extra finger. Although many parents prefer to leave things as they are.

Congenital heart disease

One of the most serious pathologies is congenital heart defects. They can be very different, but they are all associated with the incorrect formation of the heart septum.

The treatment of such a pathology directly depends on its severity. If the defects are not very significant, the doctor may decide to simply observe the baby, and with age, the baby simply outgrows such a birth defect. But babies with serious defects will face serious surgical operations. But, fortunately, today such operations in most cases are very successful.

It's important to know:

It is possible to predict the birth of a baby with a pathology using ultrasound during pregnancy. But to prevent it, unfortunately, it is impossible. But do not get upset ahead of time, because in most cases, children with the described pathologies live a full life.

Remember that before making any decision regarding the treatment of a child, it is worth listening to the opinions of at least two different specialists. In addition, do not forget about the need to visit the same genetics doctor.

Malformations (synonymous with anomalies of development) is a collective term denoting deviations from the normal structure of the body due to a violation of intrauterine or postnatal (less often) development.

The most important of the malformations are congenital malformations, formed in the prenatal period. The term "congenital malformations" should be understood as persistent morphological changes that go beyond the variation in the structure of a normal organism.

The term "malformation" is broader - a developmental disorder not only in utero, but also postnatally (dental defects, open ductus arteriosus).

"Deformity" should be called such a congenital defect that disfigures part or all of the body and is detected during external examination. It is better not to use this term in relation to living people.


Rice. 3. Absence big brain: Rice. four. Complete absence, limbs

With malformations that are compatible with life, their early diagnosis is important, since some of them can be corrected surgically. Prevention of malformations should be carried out along the lines of protecting a pregnant woman from external influences harmful to the fetus - see Antenatal protection of the fetus.

Malformations (synonym: developmental anomalies, deformities) are violations of intrauterine development, deviations from the normal structure of the body.

The science that studies deformities is called teratology (from the Greek teras, teratos - freak, deformity). The terms "deformities" and "malformations" are used as synonyms, but sometimes the mildest degrees of malformations are called developmental anomalies, and the most severe (usually accompanied by disfigurement of the appearance) - deformities. In the vast majority of cases, malformations are a consequence of embryopathy (see), occasionally fetopathy (see). Modern teaching about the etiology and pathogenesis of malformations arose on the basis of the success of embryology, genetics and experimental teratology.

For every thousand births, there are on average about 10 children with malformations. Among the perinatally dead, according to pathoanatomical data, malformations are recorded in 8.5 - 14% of cases.

Malformations can be manifested by the absence of an organ (agenesis, aplasia), its underdevelopment (hypogenesis, hypoplasia) or overdevelopment (hypergenesis, hyperplasia), closure of a canal or opening (atresia, such as atresia anus), fusion of organs or members (syndactyly; horseshoe kidney), preservation of embryonic structures (Meckel's diverticulum, open ductus arteriosus, many forms birth defects heart), non-closure of embryonic fissures (cleft lip, spine), displacement of organs or tissues, etc. In one
twins may be missing a heart, head, or limbs.

Connected double malformations occur in identical twins during early gastrulation by bifurcation of the end of the embryo or by the fusion of two embryos. Each malformation can occur only in a certain (so-called critical) period of embryogenesis, when the corresponding organ is formed (Fig. 5). When exposed to any hazards on the embryo, such a period, according to E. Schwalbe, can become a teratogenetic termination period.

The etiology of malformations is various. There are two main groups of etiological factors.

BUT. Genetic factors(burdened heredity, over-ripening of the germ cells of the parents, disorders of the chromosomal apparatus of the germ cells due to the age of the parents, etc.). At the core hereditary defects development lies mutation (see) germ cells of ancestors; it can be caused by ionizing radiation and chemical influences. Over-ripening of sex marks is a long-term (up to two days) presence of an egg or sperm in the genital tract of a woman, where these cells can be damaged. There are indications that older parents are more likely to have children with malformations; this is determined by violations of the chromosomal apparatus of the germ cells of the parents.

B. Factors directly affecting developing embryo(fetus); physical (radiation, mechanical, thermal), chemical (hypoxia, hormonal discorrelations, malnutrition, teratogenic poisons) and biological (viruses, bacteria, protozoa), as well as mental trauma mothers, indirectly causing harm to the embryo (fetus).

Of the physical factors, ionizing radiation has the greatest teratogenic value. Even small doses of radiation can sometimes cause a teratogenic effect. Mechanical damage embryo (fetus) are most often observed with amniotic adhesions. Thermal effects in the experiment, even short-term, also have a teratogenic effect.

From chemical influences highest value has hypoxia arising from various causes. From hormonal disorders leading to malformations, diabetes is the most studied. Hormonal drugs, received by the mother during pregnancy, malnutrition (lack of vitamins, essential amino acids, trace elements) can also lead to malformations. In the experiment, trypan blue proved to be a constant teratogenic agent. Recently installed the same effect sedative tolidamide. The teratogenic effect of many other chemical agents, including drugs (in particular, some antibiotics), has also been described.

Various biological agents can also cause malformations. Tperr (N.M. Gregg, 1941) and other authors described malformations associated with maternal diseases in early phases pregnancy viral infections(rubella, measles, mumps). Bacteria and their toxins, apparently, can cause malformations only indirectly, causing changes in the mother's body. The teratogenic effect of protozoa, in particular toxoplasmosis, is debatable.

The mother's mental trauma can cause hormonal changes in her, and this can ultimately lead to malformation. In this case, the pathogenetic “chain” can be as follows: fright (or prolonged negative emotions) → hyperadrenalinemia → embryonic ischemia → malformations.

The same malformations can be caused both genetically and by the influence of the external environment on the embryo (fetus).

Treatment. With some malformations (atresia, stenosis, adhesions, preservation of embryonic structures, etc.), surgical intervention may be effective.

Prevention. Social transformations of society, erasing class, property, racial and religious differences, expand the circle of people entering into marriage, which helps to reduce the number of hereditary diseases, including malformations. Genetic counseling can play a big role in preventing such diseases. A pregnant woman should be protected in every possible way from possible teratogenic effects, especially in the first three months of pregnancy, and provide her with good nutrition. X-ray studies should not be carried out during this period; you need to beware of medications that can damage the fetus, and contact with patients, especially viral infections.

Malformations of individual organs - see articles on these organs.

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