My 14 son has a flat bridge of the nose. Strabismus in infants: normal or pathological? What can you do

congenital pathology in the form of congenital malformations may occur in critical periods prenatal development under the influence of factors external environment(physical, chemical, biological, etc.). In this case, there is no damage or changes in the genome.

Risk factors for the birth of children with malformations of various genesis can be: the age of the pregnant woman over 36 years old, previous births of children with malformations, spontaneous abortions, consanguineous marriage, somatic and gynecological diseases mother, complicated course of pregnancy (threat of abortion, prematurity, postmaturity, breech presentation, little and polyhydramnios).

Deviations in the development of an organ or organ system can be gross with severe functional insufficiency or just cosmetic defect. Congenital malformations are found in the neonatal period. Small deviations in the structure, which in most cases do not affect normal function organ, are called developmental anomalies or stigmas of disembryogenesis.

Stigmas attract attention in cases where there are more than 7 of them in one child, in this case it is possible to state a dysplastic constitution. There are difficulties in clinical assessment dysplastic constitution, since one or more stigmas may be:

1. variant of the norm;
2. a symptom of a disease;
3. independent syndrome.

List of major dysplastic stigmas.

Neck and torso: short neck, its absence, pterygoid folds; short torso, short clavicles, funnel-shaped rib cage, "chicken" chest, short sternum, multiple nipples or widely spaced, asymmetrically located.

Skin and hair: hypertrichosis ( overgrowth hair), coffee stains, birthmarks, discolored skin, low or high hair growth, focal depigmentation.

Head and face: microcephalic skull (small skull size), tower skull, sloping skull, flat occiput, low forehead, narrow forehead, flat facial profile, depressed nose bridge, transverse forehead crease, low eyelids, pronounced brow ridges, wide bridge of the nose, curved nasal septum or wall of the nose, cleft chin, small upper or mandible.

Eyes: microphthalmos, macrophthalmos, oblique incision of the eyes, epicanthus (vertical skin fold at the inner canthus of the eye).

Mouth, tongue and teeth: furrowed lips, pitted teeth, malocclusion, sawtooth teeth, inward growth, palate narrow or short or gothic, vaulted, teeth sparse or stained; bifurcated tip of the tongue, short frenulum, folded tongue, large or small tongue.

Ears: Set high, low or asymmetrical, small or big ears, additional, flat, fleshy auricles, "animal" ears, attached earlobes, absence of earlobes, additional tragus.

Spine: additional ribs, scoliosis, fusion of the vertebrae.

Hand: arachnodactyly (thin and long fingers), clinodactyly (curvature of the fingers), short wide hands, curved terminal phalanges of the fingers, brachydactyly (shortening of the fingers), transverse palmar groove, flat feet.

Abdomen and genitals: asymmetric abdomen, abnormal position of the navel, underdevelopment of the labia and scrotum.

With many malformations, it is difficult to determine the role of heredity and the environment in their occurrence, that is, it is an inherited trait or is associated with the impact of adverse factors on the fetus during pregnancy.

According to WHO, 10% of newborns have chromosomal abnormalities, that is, associated with a chromosome or gene mutation, and in 5% hereditary pathology i.e. inherited.

The defects that can occur both during mutation and be inherited, or arise from the adverse effect of a damaging factor on the fetus, include: congenital dislocation of the hip, clubfoot, horse foot, non-closure of the hard palate and upper lip, anencephaly (complete or almost complete absence brain), birth defects heart, pyloric stenosis, spina bifida (spina bifida), etc.

The birth of a baby with congenital malformations is a difficult event for the family. Shock, guilt, lack of understanding of what to do next are the minimum negative experiences of the parents of such a child. The main task of mom and dad is to obtain maximum information about the disease of the child and provide him best care and treatment.

What should a future mother know about congenital malformations in order to try to avoid an undesirable outcome?

Fetal malformations can be:

• genetic (chromosomal), due to heredity. We cannot influence their development (prevent);
• formed in the fetus during fetal development (congenital), more dependent on us and our behavior, since we can limit or eliminate damaging external factors.

Chromosomal genetic malformations of the fetus

Genetic information is contained in the nucleus of every human cell in the form of 23 pairs of chromosomes. If an extra chromosome is formed in such a pair of chromosomes, this is called a trisomy.

The most common chromosomal genetic defects with whom doctors meet:

• Down syndrome;
• Patau syndrome;
• Turner syndrome;
• Edwards syndrome.

Other chromosomal defects are less common. In all cases of chromosomal disorders, one can observe a mental and physical impairment of the child's health.

It is impossible to prevent the appearance of a particular genetic abnormality, but it is possible to detect chromosomal defects by prenatal diagnosis even before the birth of a child. To do this, a woman consults a geneticist who can calculate all the risks and prescribe prenatal studies to prevent unwanted consequences.

A pregnant woman is shown a consultation with a geneticist in cases where:

• she or her partner has already had a baby with some hereditary diseases;
• one of the parents has some kind of congenital pathology that can be inherited;
• future parents are closely related;
• identified high risk chromosomal pathology of the fetus as a result of prenatal screening (result hormonal analysis blood + ultrasound);
• the age of the future mother is more than 35 years;
• the presence of CFTR gene mutations in future parents;
• the woman had missed abortions, spontaneous miscarriages or stillborn children of unknown origin in anamnesis (history).

If necessary, the geneticist offers expectant mother pass the additional examinations. Methods for examining a baby before birth, including non-invasive and invasive.

Non-invasive technologies cannot injure the baby, as they do not involve intrusion into the womb. These methods are considered safe and are offered to all pregnant women by an obstetrician-gynecologist. Non-invasive technologies include ultrasound and sampling venous blood future mother.

Invasive (chorionic biopsy, amniocentesis and cordocentesis) are the most accurate, but these methods may be unsafe for the unborn child, as they involve intrusion into the uterine cavity to collect special material for research. Invasive methods offered to the expectant mother only in special occasions and only a geneticist.

Most women prefer to attend genetics and undergo genetic research in case of any serious issues. But every woman is free in her choice. Everything depends on your specific situation, such decisions are always very individual, and no one but you knows the right answer.

Before you undergo such studies, consult with your relatives, obstetrician-gynecologist, psychologist.

Shereshevsky-Turner syndrome (XO). Occurs in girls 2:10000. Short neck, pterygoid folds on the neck, swelling of the distal extremities, congenital heart defects. In the future, sexual infantilism, short stature, primary amenorrhea are manifested.

Down syndrome (trisomy 21 chromosomes). Occurs in boys 1:1000. Wide flat nose bridge, flat nape, low hair growth, protruding large tongue, transverse crease on the palm, heart defects.

Klinefelter syndrome (XXY syndrome): tall patients with disproportionately long limbs, hypogonadism, secondary sexual characteristics are poorly developed, hair growth can be observed female type. Reduced sex drive, impotence, infertility. There is a tendency to alcoholism, homosexuality and antisocial behavior.

hereditary metabolic disorders

To features hereditary disorders metabolism include the gradual onset of the disease, the presence of a latent period, the aggravation of the signs of the disease over time, are detected more often in the process of growth and development of the child, although some may appear from the first days of life.

In the development of some forms of hereditary metabolic diseases, there is a clear connection with the nature of feeding. Chronic eating disorder that began in the neonatal period, as well as during the transition to artificial feeding or the introduction of complementary foods, may mask a deficiency of certain enzyme systems in the small intestine.

Most often in newborns, the metabolism of carbohydrates is disturbed. Most often, this is a deficiency of lactose, sucrose, etc. This group includes: galactose intolerance, glycogen accumulation, glucose intolerance, etc. General symptoms: dyspepsia, convulsions, jaundice, liver enlargement, changes in the heart, muscle hypotension.

Effective treatment started no later than two months of age. Milk is excluded from the diet, transferred to mixtures prepared on soy milk. Earlier complementary foods are introduced: porridge on meat or vegetable broth, vegetables, vegetable oils, eggs. Strict adherence to the diet is recommended up to 3 years.

Amino acid metabolism disorders. Of this group of diseases, phenylketonuria (PKU) is the most common. It is manifested by a change in the central nervous system, dyspeptic phenomena, convulsive syndrome. PKU is characterized by a combination of progressive psychomotor retardation with persistent eczematous skin lesions, a "mouse" smell of urine, and reduced pigmentation of the skin, hair, and iris.

At present, a biochemical defect has been established for 150 hereditary metabolic disorders. Successful Therapy disease is possible in the absence of early diagnosis. In the neonatal period, a mass examination of children is carried out to identify certain diseases, including PKU.

Significantly expanded opportunities early detection hereditary diseases with the introduction of prenatal diagnostic methods into practice. Most fetal diseases are diagnosed by examining the amniotic fluid and the cells it contains. Diagnose everyone chromosomal diseases, 80 gene diseases. In addition to amniocentesis, ultrasonography, determination of β-fetoprotein in the blood of pregnant women and in the amniotic fluid, the level of which increases with damage to the central nervous system in the fetus.

Non-hereditary malformations of the fetus

From the moment of fertilization, that is, the fusion of male and female gamete, the formation of a new organism begins.

Embryogenesis lasts from the 3rd week to the 3rd month. Malformations that appear during embryogenesis are called embryopathies. There are critical periods in the formation of the embryo, harmful effects damage those organs and systems that are laid at the time of exposure to the damaging factor. When exposed unfavorable factor on the 1st-2nd week, very gross defects appear, often incompatible with life, which leads to miscarriages. On the 3-4th week, the head, the cardiovascular system are formed, the rudiments of the liver, lungs, thyroid gland, kidneys, adrenal glands, pancreas, the laying of future limbs is planned, therefore, such defects as the absence of eyes arise, hearing aid, liver, kidneys, lung, pancreas, extremities, brain hernias, the formation of additional organs is possible. At the end of the first month, the laying of the genital organs, the lymphatic system, the spleen, the formation of the umbilical cord takes place.

In the second month, anomalies such as cleft lip and palate, hearing aid anomalies, cervical fistulas and cysts, chest and abdominal wall defects, diaphragm defects, heart septal defects, anomalies nervous system, vascular and muscular systems.

Embryopathies include:

• congenital diaphragmatic hernia,
• limb defects (complete absence of all or one limb, rudimentary development of the distal parts of the limbs with normal development proximal parts, the absence of proximal parts of the limbs with the normal development of the distal parts, when the hands or feet start directly from the body),
• atresia of the esophagus, intestines, anus,
• hernia of the umbilical cord,
• atresia of the biliary tract,
• lung agenesis (absence of one lung),
• congenital heart defects
• malformations of the kidneys and urinary tract,
• malformations of the central nervous system (anencephaly - the absence of the brain, microcephaly - the underdevelopment of the brain).

Fetopathy. The fetal period lasts from the 4th week prenatal period before the birth of the child. He, in turn, is divided into early - from the 4th month. up to the 7th month, and late - the 8th and 9th months. pregnancy.

When exposed to a damaging factor in the early neonatal period on the fetus, a violation of the differentiation of an already pledged organ occurs. Fetopathies (early) include: hydrocephalus, microcephaly, microphthalmia and other malformations of the central nervous system, pulmonary cystosis, hydronephrosis, hernia of the head and spinal cord- protrusion medulla through sutures and bone defects. Craniocerebral hernias are more often localized at the root of the nose or in the posterior cranial region.

Congenital intrauterine malformations of the fetus can be of a diverse nature, as they can affect almost any organ, any system of a developing baby.

The following environmental hazards are known

• Alcohol and drugs - often lead to serious disorders and malformations of the fetus, sometimes incompatible with life.
• Nicotine - can cause a lag in the growth and development of a child.
• Medications are especially dangerous in the early stages of pregnancy. They can cause a variety of malformations of the baby. If possible, it is better to refrain from using medications even after the 15-16th week of pregnancy (an exception when it is necessary to maintain the health of the mother and baby).
• Infectious diseases transmitted from mother to child are very dangerous for the baby, as they can cause serious violations and developmental defects.
• X-ray, radiation - are the cause of many fetal malformations.
• Mom's professional hazards (harmful workshops, etc.), which have toxic effects on the fetus - can seriously affect its development.

Congenital pathology of the fetus is detected at various stages of pregnancy, so the expectant mother needs to undergo timely examinations by doctors at the recommended time

• in the first trimester of pregnancy: 6-8 weeks (ultrasound) and 10-12 weeks (ultrasound + blood test);
• in the II trimester of pregnancy: 16-20 weeks (ultrasound + blood test) and 23-25 ​​weeks (ultrasound);
• in the III trimester of pregnancy: 30-32 weeks (ultrasound + doppler) and 35-37 weeks (ultrasound + doppler).

Prenatal diagnosis is becoming more and more common these days, because knowledge about the health of the unborn baby and prognosis are very important for future parents. Knowing about the condition of the fetus, the family, having assessed the situation and its capabilities, may refuse to become pregnant.

Down syndrome is the most common genetic disorder. Foundation this disease It is laid even at the time of the formation of the egg or sperm. A child who has such a problem has a slightly different chromosome set. He is anomalous. If an ordinary baby has 46 chromosomes, then a down child has 47.

risk factor

The causes of the disease are not yet fully understood. However, physicians from all over the world came to a unanimous decision. They argue: the older the woman who gives birth, the higher the risk of having a child with this disease. At the same time, the gender of the baby, the age of the father and the environment of residence do not matter.

The most for a woman - after thirty-five years. The probability of having a baby with the wrong set of chromosomes increases several times. This is especially true for families that already have such a “sunny baby”. in a newborn child, they manifest themselves in the womb. At the twelfth week of pregnancy, ultrasound can show pathology. But this is not a guarantee that the baby will be born unhealthy. Accurate result can be found only after childbirth. But even this is not enough. To confirm the diagnosis or exclude it, you need to special examinations. External signs Down syndrome in newborns is not always a confirmation of the deviation.

signs in newborns

The term "syndrome" in medicine means a set of signs that manifest themselves in a certain state of a person. In 1866, the scientist and physician John Down grouped a set of symptoms in a specific group of people with this disease. The syndrome is named after this person.

Most often in a newborn, they are noticeable immediately after birth. Such children, unfortunately, are born quite often. For every seven hundred newborns, there is one child with Down syndrome. At the same time, most babies show the same signs:

• The face is slightly flattened and flat. The back of the head has the same shape.
• There is a skin fold on the neck.
• There is a decrease in muscle tone.
• The baby has an oblique incision, and their corners are raised. A "Mongolian fold" is formed, or the so-called third eyelid.
• The child's limbs are short when compared with other children.
• He has very mobile joints.
• The fingers are the same length, so the palm appears wide and flat.
• The child has short stature. Most often, with age, excess weight appears.

Down syndrome is characterized by such features. Almost all signs are associated with deformation of the skull and facial features, as well as with bone and muscle tissue. However, there are other signs as well. They don't meet that often.

Less common signs

Down syndrome (signs in newborns very often appear already in infancy) can be diagnosed based on other indicators. Among them:

1. Small mouth and arched narrow palate.
2. Weak tone of the tongue: it constantly protrudes from the mouth. Over time, wrinkles may form on it.
3. A small chin, as well as a short nose and a wide bridge of the nose.
4. Short neck.
5. A horizontal crease may form on the palms.
6. The big toe is at a great distance from the others. And on the foot under it there is a crease.

These signs of Down syndrome in a newborn may not appear immediately, but as they grow older. By the way, with age, the child often begins to have problems with the cardiovascular system.

What is not noticeable at first sight

Even the above signs can not always guarantee the fact that the baby has Down syndrome. Signs in newborns may not only be clearly visible. Doctors also diagnose internal differences that cannot be detected immediately when a baby is born. In the future, doctors should pay attention to such factors:

• epileptic seizures;
• congenital leukemia;
• clouding of the lens and age spots on the pupils;
• abnormal structure of the chest;
• diseases of the digestive and genitourinary systems.

All of them can talk about a chromosomal abnormality. Such signs of Down syndrome in a baby are found only in ten cases out of a hundred. Also, some children have two fontanelles. In addition, they do not close for a very long time. It has been established that all children with such an anomaly are very similar to each other. And the features of parents in their appearance are usually not visible.

Diagnostics

There are several methods to detect this anomaly:

1. With the help of ultrasound, the size of the "collar" in the fetus is determined. If subcutaneous fluid appears in this zone between the eleventh and thirteenth weeks of pregnancy, then there is a risk of a chromosomal abnormality. However, the technique does not always show the correct results.
2. Combined method. Its essence lies in the fact that ultrasound examination and a special blood test is taken at the same time.
3. Examination of amniotic fluid. Women who have been found to have a high risk of having a baby with Down syndrome using this manipulation should continue further research to determine the exact result.

Types of deviation

The signs and symptoms of Down syndrome in a newborn may vary. It is generally accepted that the deviation is characterized not by two, but by three copies of the twenty-first chromosome. But there are also other forms of pathology. It is also very important to know about them. First, it is the so-called familial Down syndrome. It is characterized by the attachment of the twenty-first chromosome to any other. Such a deviation is quite rare. It occurs in about three percent of cases.

Mosaic syndrome manifests itself when not all the cells of the body contain. This anomaly occurs in 5% of patients. Another type of syndrome is the duplication of part of the twenty-first chromosome. Pathology occurs infrequently. Such a deviation is characterized by the division of some chromosomes.

Signs in the fetus

Quite often there are newborn children with Down syndrome. Signs can be identified not only in the baby who was born, but also in the fetus. This deviation, as already mentioned, can be seen on ultrasound between the twelfth and fourteenth weeks of pregnancy. In this case, not only the thickness of the collar zone is checked, but also the size of the nasal bone. If it is too small or completely absent, this indicates the presence of the syndrome. The same can be said about the collar zone, if it is wider than 2.5 mm.

For more later dates you can notice not only this pathology, but also others. But patients should understand that it is impossible to accurately detect the disease in the fetus. It has been proven that 5% of the signs seen on ultrasound can be false.

Newborn children with Down syndrome: signs in a child

Many parents are too perplexed appearance their baby. However, there may be many other serious problems. These children are susceptible to many diseases. They may suffer from the following ailments:

• Lag in mental and physical development.
• Impaired vision and hearing, which may appear quite unexpectedly.
• Delays in the development of fine motor skills.
• Excessive mobility of bones, joints and muscles.
• Very low immunity.
• Problems with lungs, liver and digestive system.
• heart and blood diseases, including leukemia.

Correct solution

Thanks to modern technologies, a woman learns about the presence of chromosomal pathologies in the fetus. On early term a mother can terminate a pregnancy, thus depriving the life of an unborn baby. Down syndrome is not deadly disease. But the mother of the child can determine in advance his and his fate. To date, this chromosomal anomaly is enough frequent occurrence. You can meet a person and not even believe that he has Down syndrome. Of course, raising such a child is a little more difficult. His life will be different from the life of other children. But no one says that he will be unhappy. Only the mother has the right to decide his future fate.

It is important for the father and mother of the “sunny baby” to remember the following truths:

1. Children with Down syndrome are quite learnable, although they have developmental delays. To do this, you need to use special programs.
2. Such children develop much faster if they are in a team with ordinary peers. It is better if they are brought up in families, and not in specialized boarding schools.
3. After school, patients with an anomaly of the twenty-first chromosome may well receive higher education. Do not focus too much on the child's illness.
4. "Children of the Sun" are very kind and friendly. They are able to sincerely love and create families. However, they have a very high risk of having a child with Down syndrome.
5. Thanks to new medical inventions, such people can extend their lives up to fifty years.
6. Do not take the blame for the birth of " solar baby". Even quite healthy women can give birth to such a baby.
7. If your family has a child with this anomaly, then the risk of having the same baby is approximately one percent.

Down syndrome (signs in newborns have been identified in this article) allows children to grow, develop and enjoy life. Our task is to give them support, give attention and love.

passing through birth canal, the whole body of the child is very strongly compressed, as a result of which the head of the newborn may have asymmetry, and the face may be puffy.

Head of a newborn baby

The head of a newborn is relatively large; immediately after birth, almost every child can notice some deformation of the head, less often - asymmetry is obvious. As a rule, any such changes are temporary and should not scare young parents.

The main cause of deformation, as already mentioned, is the process of passing a little man through the birth canal. The fact is that the bones of the child's skull during the passage of this difficult journey are forced to move slightly relative to each other. For this reason, experts have identified a certain pattern: the larger the baby's head, the more deformation it will be subject to. As a rule, a large head is characteristic of a large fetus.

Babies who were born with the help do not have a noticeable deformation of the head.

If you carefully and carefully feel the head of a newborn child, you can easily find the so-called fontanelles. They are a soft area of ​​skin between the bones of the skull, with light pressure on such areas with a finger, you can feel some pulsation. The largest fontanel is located just above the top of the head, the second is slightly lower from the large one. As the baby grows, his fontanels tighten; as a rule, by the year they disappear altogether.

Newborn face

In the first hours after childbirth, the face of the newborn still retains traces of strong compression: the nose is flattened, the eyelids are slightly swollen, the skin is swollen, with a reddish tint. In the folds on the face (in the area of ​​the nose), behind the ears there are small accumulations of a special secret in the form of white / yellowish dots, thanks to this lubricating secret, it was easier for the child to pass through the birth canal. It is not worth removing such accumulations on your own, over time they will pass by themselves.

Separately, it is worth talking about the nose of a newborn. Immediately after birth, this olfactory organ will be slightly flattened and, as it may seem, very large. This state, again, is explained by the journey that the baby had to go through. After a couple of days, the baby's nose will become neat.

In the very first minutes after birth, all nasal cavity newborn is filled amniotic fluid, which doctors remove on their own using a special suction. The cartilage of the nose of the baby is very soft. Nasal passages are relatively narrow a large number of blood vessels, therefore, if the vessels expand (i.e., the mucous membrane swells), then the baby’s breathing becomes much more difficult. If breathing is difficult, then the baby will often interrupt during feeding to inhale air through the mouth. inevitable.

Experts say that a newborn is able to distinguish smells almost immediately after birth. They can even boast of a good sense of smell. In this regard, a young mother should remember: it is better to leave experiments with toilet waters / deodorants for later if she wants to breastfeed her baby for a long time.

If the baby is large, then, most likely, some deformation of the face will be visually noticeable: during childbirth, not only the bones of the skull, but also the bones on the baby's face were displaced. Such a face will not seem pretty to a young mother, but by the time she is discharged, the baby’s skin will have time to smooth out and he will appear in front of his dad (and other relatives) in his very glory.

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	ANSWERS ON QUESTIONS

The concepts of "congenital" and "hereditary" are not identical. Not every "congenital" is "hereditary". Congenital pathology can occur during critical periods of embryogenesis under the influence of environmental teratogenic factors (physical, chemical, biological, etc.) - embryopathy and fetopathy. In this case, there is no damage to the genome, and the resulting disorders often completely copy the effect of the mutant gene (phenocopy). hereditary disease as a result of the action of a mutant gene, it can manifest itself not only from birth, but sometimes a lot of time later.

Risk factors for the birth of children with malformations of various genesis are considered: the age of the pregnant woman is more than 36 years, previous births of children with malformations, spontaneous abortions, consanguineous marriage, somatic and gynecological diseases of the mother, complicated pregnancy (threatened miscarriage, prematurity, postmaturity, breech presentation , little and polyhydramnios).

Deviations in the development of an organ or organ system can be gross with severe functional deficiency or a cosmetic defect. They are detected during the neonatal period (congenital malformations). Small deviations in the structure, which in most cases do not affect the normal function of the organ, are called developmental anomalies, or dysembryogenesis stigmas.

Stigmas attract attention as constitutional features in cases where they have excess accumulation(more than 7) in one child, give rise to such a syndromic diagnosis as dysplastic status.

Pheno- and genocopy, incomplete penetrance and expressivity of genes make it difficult to assess the nature of inheritance of individual anomalies in each specific observation, which determines the need to study the stigmatization of a child by comparative analysis with the characteristics of his parents and relatives.

With hereditary and congenital diseases nervous system, as a rule, there is a significant increase in the number of stigmas exceeding the conditional threshold by 2-3 times or more. There is a certain parallelism between the increase in the level of stigmatization and the severity neurological syndromes, their tendency to convulsive reactions, liquorodynamic disorders and cerebral edema. A correct assessment of dysplastic features of development makes it possible to classify a newborn as a risk group for emergency conditions and take this into account when observing him.

The polyetiology of dysplastic constitutional developmental features creates difficulties in their clinical assessment, since one or more stigmas may turn out to be:

1. variant of the norm;
2. a symptom of a disease;
3. an independent syndrome or even an independent nosological form.

List of dysplastic stigmas

Neck and torso: short, absent, pterygoid folds; short, long, short collarbones, funnel chest, "chicken" chest, short sternum, multiple nipples, asymmetrically located nipples.

Skin and hair: hypertrichosis, coffee-colored spots, polymastia, birthmarks, discolored skin, shagreen skin; hair growth is low, hair growth is high, focal depigmentation.

Head and face: macrocephalic skull, dolichocephalic, tower, oxycephaly, scaphocephaly, cebocephaly, flat occiput; low forehead, narrow forehead, flat facial profile, depressed bridge of the nose, transverse forehead crease, low standing eyelids, pronounced superciliary arches, broad bridge of the nose, deviated nasal septum or bridge of the nose, bifurcated chin, microstomia, micrognathia, prognathism, sloping chin, wedge-shaped chin, macrognathia, hypertelorism.

Eyes: microphthalmos, macrophthalmos, iris coloboma, macrocornea, microcornea, iris heterochromia, oblique eye incision, epicanthus.

Mouth, tongue and teeth: lips with furrows, holes in the teeth, malocclusion, supernumerary teeth, sawtooth teeth, styloid incisors, teeth growing inwards, furrow on alveolar process, palate short, palate narrow, gothic palate, vaulted palate, sparse teeth, stained teeth, tongue protrusion, forked tip, short frenulum, folded tongue, macroglossia, microglossia.

Ears: set high, set low, set asymmetrically, microtia, macrotia, accessory, flat, fleshy auricles, "animal ears", attached earlobes, no earlobe.

Spine: additional ribs, slip, sacralization L v , dorsalization T V n , fusion of the vertebrae.

Hand: arachnodactyly, clinodactyly, short wide brushes, curved terminal phalanges of the fingers, camptodactyly, oligodactyly, brachydactyly, transverse palmar groove, clinodactyly, sandal gap, symphalange, overlapping fingers, flat feet.

Belly and genitals: asymmetries in the structure of the abdominal muscles, incorrect location of the navel; underdevelopment of the labia and scrotum.

Some of the dysplastic developmental features create serious developmental difficulties as the child grows. So, for example, the curvature of the nasal septum makes it difficult nasal breathing and creates the prerequisites for a number of features of the development of the central nervous system; bite anomalies disrupt the act of chewing and create prerequisites for dysfunction gastrointestinal tract; delay in the development of the eyes and ears (visually and hearing impaired children) due to impaired afferentation creates conditions for delayed maturation (myelination) of the central nervous system, etc. In other words, secondary morphofunctional changes in the body may occur based on congenital hereditary microanomalies.

For many malformations, there are no significant differences between phenocopy and hereditary lesions. At the same time, determining the role of heredity and the environment in the occurrence of this pathology, i.e., the “heritability” of a trait, is extremely important for the patient and his family.

All this emphasizes the need for a thorough collection of a genealogical history, information about the course of ante-, intra- and postnatal periods, although the identification of a specific damaging agent in specific cases is a very difficult task.

Mutational changes in the structures of heredity can occur at the chromosomal and gene levels.

According to WHO (1970), chromosomal abnormalities are found in 1% of newborns; on average, 1% of all newborns (including stillborns) have signs of the influence of single mutant genes broad action and 3-4% recognize isolated anomalies determined by polygenic systems. In general, about 5% of newborns have a hereditary pathology.

Multifactorial malformations include: congenital dislocation of the hip, clubfoot, equine foot, cleft hard palate and upper lip, anencephaly, congenital heart defects, pyloric stenosis, spina bifida, Hirschsprung's disease, etc. The effect of an increase in the frequency of a certain defect among close relatives of the proband is clearly established, which best corresponds to the hypothesis of polygenic inheritance with a threshold effect.

Unlike monogenic (dominant or recessive) traits with complete penetrance When the risk of having the next sick child in the family is 50% or 25%, respectively, the risk of having a child with a polygenically inherited defect is variable. It increases as the number of affected in the family increases, depending on the severity of the defect. For many malformations, there are pronounced sex differences in the incidence of lesions.

Gross structural and numerical anomalies of chromosomes are usually diagnosed in the neonatal period.

Chromosomal aberrations significantly affect the indicator perinatal mortality. Their clinical manifestations are variable: from small
developmental anomalies to gross, multiple malformations incompatible with life.

The most common syndromes of chromosomal aberrations are:

Monosomy, CW (Shereshevsky-Turner syndrome) - a short neck, pterygoid folds of the neck, lymphatic edema of the distal extremities, congenital heart defects (coarctation of the aorta, defect between the ventricular septum), etc. Later, sexual infantilism, short stature, primary amenorrhea appear.

The following trisomy syndromes are known:

1) 13-15 (Patau's syndrome) - craniocephalic dysplasia (microcephaly, arynencephaly, agenesis of bone beams; non-closure of the lip, lower jaw and palate; congenital deafness, malformations auricle; eye defects; heart and kidney defects; arthrogrippopodobny changes in the fingers, polydactyly or four-fingered; splitting of the walls of the abdomen; aplasia of the nasal bones;

2) 18-20 (Edwards syndrome) up to 75% of patients with this syndrome are female. Symptoms: intrauterine malnutrition, craniofacial dysostosis in the form of a small skull squeezed from the sides, a small forehead, low and abnormally shaped ears, a small, triangular mouth; short neck, short chest, heart hump. The characteristic arrangement of the fingers of the hands is that they are bent, the index finger overlaps the middle one, and the little finger - IV. Permanent defects of the heart, kidneys, digestive tract;

3) 21-30 (Down syndrome). Meet various options: mosaic, translocation. Diagnosis with typical clinical picture placed in the maternity hospital. Symptoms: oblique incision of the eyes, wide flat bridge of the nose, flat nape, low hair growth, protruding tongue, one- or two-sided transverse furrow of the palm, heart defects. Life expectancy depends on the accession of intercurrent diseases.

Trisomy 8+, 9+, 22+ are less common; others, such as Y +, X + (triplo-X, Klinefelter syndromes), are diagnosed mainly in pre- and puberty, on the basis of signs of eunuchoidism, decreased intelligence, and later - infertility.

Syndromes due to deletions: 4p-, (Wolf-Hirshhorn syndrome), 5p-, (cat's cry syndrome), 9p-, 13d-, 18d-, 18d-, 21d-, 22d-, have common features(prenatal malnutrition, various dysplastic signs of the skull, face, skeleton, limbs); mental retardation develops later.

Diagnosis of disaccharidase deficiency is based on a complex of laboratory and biochemical studies. The reaction of feces is acidic (pH<5,0), высокое содержание молочной кислоты и крахмала. В зависимости от формы ферментопатии в моче и кале определяются лактоза, сахароза, мальтоза, глюкоза, галактоза. Ориентировочной качественной пробой служит проба Бенедикта на редуцирующие сахара в моче. Подтвердить диагноз возможно с помощью нагрузочных проб. Плоская сахарная кривая после пероральной нагрузки соответствующими моно- и дисахаридами указывает на неспособность их расщепления или усвоения организмом вследствие ферментопатии.

In some cases, hereditary pathology of carbohydrate absorption leads to a condition that threatens the life of the child.

Galactosemia is a disease with an autosomal recessive type of inheritance, which is based on the absence or a decrease in the activity of the enzyme galactose-1-phosphate-uridyltransferase to varying degrees. As a result, galactose and galactose-1-phosphate (Ga-1-ph), which is toxic to the body, accumulate in the blood and a true glucose deficiency occurs. Hypoglycemia is also supported by the irritating effect of galactose on the insular apparatus and the overwhelming effect of Ga-1-f on glucogenolysis.

From the toxic action of Ga-1-f, the central nervous system, erythrocytes, the lens of the eye, liver, and kidneys are damaged.

In severe form, signs of the disease appear in the first days and weeks of life. The newborn is reluctant to take milk. Characterized by anorexia, vomiting, bloated abdomen, dyspepsia, lethargy (hypoglycemic manifestations) and persistent jaundice. At first, jaundice resembles physiological, but after the 5-6th day, instead of decreasing, it intensifies with an increase in the content of predominantly free bilirubin. The liver enlarges, and signs of cirrhosis appear (dense consistency, ascites, splenomegaly, etc.). The child is gaining weight and height poorly. Typical neurological symptoms in the form of lethargy, adynamia or agitation, anxiety, convulsive syndrome. There is swelling of the brain. Sometimes symptoms of bleeding join, as liver damage leads to hypoproteinemia and hypoprothrombinemia. In 25% of patients, hemolytic jaundice can be noted, since damaged red blood cells bind 25-30% less oxygen, have a shortened life expectancy and hemolyze. In the urine, proteinuria (globulinuria of tubular origin), aminoaciduria, and mellituria are noted. Cataracts may be congenital or appear in the 3rd week. In galactosemia, galactose is converted to galactitol (dulcitol) by aldolazoreductase. Galactitol is not metabolized and plays a pathogenetic role in the appearance of cataracts. Symptoms of the disease can progress and lead to coma and death within a few weeks. Often the course of the disease is longer. Lagging behind in psychomotor development is characteristic.

In mild forms of the disease, gastrointestinal symptoms are less pronounced, but cataracts and hepatosplenomegaly are always present. The differential diagnostic series for galactosemia includes all types of intrauterine infections, accompanied by jaundice and eye damage (toxoplasmosis, listeriosis, rubella, syphilis); congenital hepatitis; various types of jaundice of other origin (hemolytic and non-hemolytic); sepsis and intestinal infections. In addition, it is necessary to differentiate galactosemia with diabetes mellitus. Since there is a similarity in some clinical symptoms, the presence of mellituria and an increase in total blood sugar (as determined by the Hagedorn-Jensen method). However, with galactosemia, there is a decrease in the concentration of glucose, with diabetes - its increase.

Diagnosis is based on genealogical history and biochemical studies. Characterized by galactosemia (more than 0.2 g / l), galactosuria (more than 0.25 g / l), an increase in Ga-1-f in the erythrocyte mass up to 400 mg / ml (instead of 1-14 μg / l); a decrease in the activity of galactose-1-phosphate-uridyltransferase by 10 times compared with the norm (4.3-5.8 U) per 1 g of Hb (according to the Kalkar method). A Guthrie semi-quantitative microbiological test with an auxotrophic strain of Escherichia coli is used.

Effective treatment started no later than 2 months of age. Milk and dairy products are excluded from the diet. The task is difficult, but doable. Milk is replaced with casein hydrolysates, mixtures prepared with soy and almond milk. Complementary foods are introduced 1 month earlier than with artificial feeding: porridge on meat and vegetable broths, vegetables, vegetable oils and eggs. Strict adherence to the diet is recommended up to 3 years. Orotic acid and its salts, as well as testosterone derivatives, have a positive effect on the maturation of galactose-1-phosphate-uridyltransferase.

An extensive group, important in practical terms, is represented by enzymopathies of amino acid metabolism. Violations in the metabolism of amino acids are called either aminoacidemias or aminoaciduria, which are divided into excessive, non-threshold and transport. With excessive aminoaciduria as a result of a congenital metabolic block, the amino acid, accumulating in the blood to a certain limit, is excreted in the urine. These include classical phenylketonuria (PKU), tyrosinosis, alkaptonuria, histidinemia, valinemia, leucinosis (“maple syrup-scented urine disease”), hereditary defects in the urea synthesis cycle, etc.

Quite early in newborns and infants, changes in the central nervous system and dyspeptic symptoms due to exposure to toxic metabolites are detected. In newborns, these changes are nonspecific. Common to all types of amino acid metabolism disorders is a convulsive syndrome.

PKU is characterized by a combination of progressive psychomotor retardation with persistent eczematous skin lesions, convulsions and a "mouse" smell of urine, reduced pigmentation of the skin, hair and iris.

Disturbances in tryptophan metabolism (B 6 -dependent conditions) are characterized by persistent eczematous dermatosis, anemia, and allergic conditions.

Leucinosis is characterized by the occurrence from the first days of life of convulsive syndrome, vomiting, respiratory distress and a characteristic smell of urine, reminiscent of a decoction of root crops. Some parents talk about the cabbage smell. There is a lag in mental and physical development, ataxia.

Tyrosinosis - a violation of the metabolism of tyrosine - leads to the development of dystrophy, cirrhosis of the liver, rickets-like changes in the skeleton, lesions of the renal tubules. In children from the first weeks of life, vomiting, diarrhea, lag in physical development, hepatosplenomegaly, and respiratory failure are noted.

In newborns, especially premature ones, in the first days and weeks of life, functional immaturity of many organs and systems is noted, and embryopathies are not uncommon, which have similar features with hereditary enzymopathies. Often the disease passes under the diagnosis of "birth trauma, posthypoxic encephalopathy". The ineffectiveness of therapy, the deterioration of the condition every month, the presence of specific symptoms (unusual smell of urine) serve as the basis for examination for hereditary enzymopathy. A large number of phenocopies require diagnosis at the biochemical level.

Transient dysgammaglobulinemia in newborns may mask genetically determined immunodeficiency states for some time. The child has an early onset and a tendency to recurrent bacterial infection.

The pathology under consideration is not tied to any particular race or gender. It can occur as an isolated defect, or be combined with other malformations.

The doctor detects anomalies often at the first examination, and only surgical intervention is required to eliminate them.

Causes of congenital deformities and defects of the nose - who is at risk?

Errors in the formation of the external nose arise due to the negative influence of the environment, bad habits, and some other factors on the health of the expectant mother, who is 6-12 weeks pregnant.

External defects of the nose are not only an aesthetic problem - they can provoke serious developmental disorders in the future.

There are several factors, the impact of which on a pregnant woman can cause congenital anomalies of the nose in a child:

• Infection of the body with diseases from the TORCH group. Because of this, in the territory of the Russian Federation in the first trimester of pregnancy, women are tested for rubella, toxoplasmosis, cytomegalovirus, hepatitis virus, herpes, and syphilis.
• Radioactive or ionizing radiation.
• Poisoning by chemical agents.
• Taking certain medications.
• Alcoholism.
• Tobacco smoking.
• genetic predisposition.
• Taking drugs.

Types of congenital anomalies of the nose in the medical classification

To date, in medical sources, the ailment in question is classified as follows:

1. Dysmorphogenesis

A condition in which the bony and cartilaginous skeleton of the nose is altered.

There are several types:

• Hypogenesis . It is characterized by underdevelopment, shortening of the external structures of the nose: back, base, wings. Deformations can affect all or one structure, be unilateral or bilateral. In rare cases, there may be a complete absence of the above components of the nose. This state of affairs is referred to in some sources as agenesis.
• hypergenesis . Cartilaginous or bone tissues here are very large. This group of deformities includes a wide, too long nose, as well as an extensive nasal tip.
• Dysgenesis . Malformations are concentrated in the frontal plane. The curvature of the nose can have a different shape (obliqueness, S-shaped deformation, lateral proboscis, hump on the nose, etc.).

2. Persistence

Pathological conditions in which the newborn has "unnecessary" components of the external nose.

This group of anomalies is divided into two types:

• Defects of the outer part of the nose : solitary neoplasms at the base of the nose, which contain fatty glands and hair; cleft nose lateral / median; forked tip of the nose.
• Intranasal anomalies : separation - or complete separation - of the turbinates from each other; nasal atresia.

3. Dystopia

With these defects, the external nose has a variety of neoplasms that can be located in different places.

For example, the nasal septum can be completed with an appendage, which will negatively affect nasal breathing and the function of smell.

Another example is the presence of a vesicle on the nasal concha with a glandular secret inside. In the future, purulent infiltrate may accumulate in such vesicles, which will lead to inflammation of the nasal mucosa.

Symptoms of congenital anomalies of the nose - diagnosis of nasal defects in newborns

One of the most striking manifestations of the disease in question is the non-standard shape of the nose, as well as deformations of the facial part of the skull.

Typical for all types of anomalies is a violation of free breathing through the nose.

This phenomenon is characterized by the following conditions:

• Too noisy, rapid breathing.
• Cyanosis of the nasolabial triangle.
• Discomfort when swallowing.
• Asphyxiation, respiratory failure can develop in particularly difficult cases.
• The exit of food out through the nasal passages in the process of feeding.
• The newborn is constantly restless, does not sleep well.

Dystopia, unlike other congenital malformations of the nose, manifests itself more clearly. The patient has a constant accumulation of thick mucus in the nasal passages, as a result of which dermatitis can form near the nose and upper lip.

The presence of cysts, fistulas can cause regular inflammatory processes, which in the future can develop into, frontal sinusitis, or meningitis.

This anomaly is diagnosed by a pediatrician - or a neonatologist - through the following measures:

• Questioning the mother about the diseases suffered during pregnancy, clarifying the moment of genetic predisposition. An important role is played by the presence of harmful factors that can affect the development of the fetus.
• Examination of a newborn in order to identify deformities of the facial skull. With serious defects in the nose, these modifications will be visible.
• Laboratory studies are needed to confirm/exclude TORCH infections in the child's blood. Using the same technique, inflammatory exacerbations are checked.
• Rhinoscopy, using a special mini-mirror, is designed to examine the state of the internal structures of the nose.
• Probing helps to study the degree of patency of the nasal passages. For this manipulation, a rubber or metal catheter is used.
• Fibroendoscopy. It makes it possible to examine in detail the mucous membrane of the nose and nasopharynx, intranasal structures, identify the smallest neoplasms, and also record all this on the monitor using a video camera.
• Radiography. Allows you to explore pathological changes in the nose, which are impossible to detect with superficial diagnostics. In some cases, a contrast agent may also be used.
• . It makes it possible to get a complete picture of the existing changes inside the nasal cavity. This technique is used to study the quality of the patency of the nasal passages.
• MRI. Assign in exceptional cases, when there are suspicions of violations in the brain.

Treatment of congenital anomalies of the nose - indications and contraindications for surgery

The pathology under consideration is treated exclusively by surgery.

In the complete absence of patency of the nasal cavity, the fusion is pierced, and a catheter is inserted into the hole formed.

In infants during surgical manipulation, the choice is made in favor of transnasal access.

• The mucous membrane is excised with a scalpel and peeled off to the site of the proposed atresia localization.
• The specified defect is eliminated by means of a medical chisel, and a thermoplastic tube is inserted into the formed lumen to provide drainage.

With severe defects of the external nose rhinoplasty is performed as early as possible. This helps to prevent deformation of the facial skull, and does not affect the development of the alveolar process of the upper jaw.

In parallel with this, it is possible to carry out microsurgical manipulations on intranasal structures that contribute to the preservation of the sense of smell.

With less pronounced deformations plastic surgery can be delayed, but the decision is always made by the doctor.

Fistulas before excision are necessarily examined through fistulography. Cystic neoplasms in the nasal cavity are also eliminated, regardless of the age of the child. If the congenital fistula is located close to the anterior cranial fossa, a neurosurgeon must also be present at the operation.