My son at 1 4 has a flat bridge of his nose. Strabismus in infants: normal or pathological? What can you do

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

Risk factors for the birth of children with developmental defects of various origins may be: the age of the pregnant woman over 36 years, previous births of children with developmental defects, spontaneous abortions, consanguineous marriage, somatic and gynecological diseases mother, complicated pregnancy (threat of miscarriage, prematurity, postmaturity, breech presentation, oligohydramnios and polyhydramnios).

Deviations in the development of an organ or organ system can be severe with pronounced functional impairment or just cosmetic defect. Congenital malformations are detected in the newborn period. Minor 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 which case a dysplastic constitution can be stated. There are difficulties in clinical assessment dysplastic constitution, since one or more stigmas may be:

variant of the norm;
a symptom of a disease;
independent syndrome.

List of main dysplastic stigmas.

Neck and torso: short neck, lack of it, wing-shaped folds; short body, short collarbones, funnel-shaped rib cage, “chicken” chest, short sternum, multiple nipples or widely spaced, asymmetrically located.

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

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

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

Mouth, tongue and teeth: grooved lips, sockets in teeth, malocclusions, sawtooth teeth, inward growing teeth, narrow or short palate or gothic, arched, sparse or stained teeth; forked tip of the tongue, shortened frenulum, folded tongue, large or small tongue.

Ears: high, low or asymmetrical, small or big ears, additional, flat, fleshy ears, “animal” ears, attached lobes, absence of lobes, additional tragus.

Spine: extra ribs, scoliosis, vertebral fusion.

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

Abdomen and genitals: asymmetrical abdomen, incorrect location of the navel, underdevelopment of the labia and scrotum.

With many developmental defects, it is difficult to determine the role of heredity and 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 are diagnosed with chromosomal abnormalities, that is, associated with a mutation of a chromosome or gene, and in 5% hereditary pathology, that is, inherited.

Defects that can arise either as a result of mutation, or be inherited, or occur due to the adverse effect of a damaging factor on the fetus, include: congenital dislocation of the hip, clubfoot, cauda equina, cleft palate and upper lip, anencephaly (complete or almost complete absence brain), birth defects heart disease, 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 minimal negative experiences of the parents of such a child. The main task of mom and dad is to obtain maximum information about the child’s illness and provide him with best care and treatment.

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

Fetal malformations may be:

genetic (chromosomal), due to heredity. We cannot influence (prevent) their development;
formed in the fetus during intrauterine development (congenital), largely 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 extra chromosome is formed in such a pair of chromosomes, this is called trisomy.

The most common chromosomal genetic defects with whom doctors meet:

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

Other chromosomal defects are also less common. In all cases of chromosomal disorders, mental and physical impairment of the child’s health can be observed.

It is impossible to prevent the occurrence of one or another genetic abnormality, but chromosomal defects can be detected through prenatal diagnosis even before the birth of the child. To do this, a woman consults with a geneticist, who can calculate all the risks and prescribe prenatal tests to prevent undesirable consequences.

A pregnant woman is advised to consult a geneticist if:

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 expectant 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 the anamnesis (history).

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

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

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

Shereshevsky-Turner syndrome (TS). Occurs in girls 2:10000. Short neck, pterygoid folds on the neck, edema of the distal extremities, congenital heart defects. Subsequently, sexual infantilism, short stature, and primary amenorrhea appear.

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

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

Hereditary metabolic disorders

To the features hereditary disorders metabolic diseases include a gradual onset of the disease, the presence of a latent period, worsening signs of the disease over time, and are detected more often during the 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 begins 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, carbohydrate metabolism is disrupted in newborns. 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.

Treatment is effective if started no later than two months of age. Milk is excluded from the diet and switched to mixtures prepared in soy milk. Previously, complementary foods were introduced: porridge with meat or vegetable broth, vegetables, vegetable oils, eggs. Strict adherence to the diet is recommended up to 3 years of age.

Amino acid metabolism disorders. Of this group of diseases, phenylketonuria (PKU) is the most common. Manifested by changes in the central nervous system, dyspeptic symptoms, convulsive syndrome. PKU is characterized by a combination of progressive psychomotor retardation with persistent eczematous skin lesions, a “mouse” odor of urine, and decreased pigmentation of the skin, hair, and iris.

Currently, a biochemical defect has been identified for 150 hereditary metabolic disorders. Successful therapy disease is possible in the absence of it early diagnosis. During the neonatal period, mass examinations of children are carried out to identify certain diseases, including PKU.

Opportunities have expanded significantly 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. Everyone is diagnosed chromosomal diseases, 80 gene diseases. In addition to amniocentesis, they use ultrasonography, determination of β-fetoprotein in the blood of pregnant women and in amniotic fluid, the level of which increases with damage to the central nervous system in the fetus.

Non-hereditary fetal malformations

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

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

In the second month, abnormalities such as cleft lip and palate, hearing aid abnormalities, cervical fistulas and cysts, chest and abdominal wall defects, defects of the diaphragm, heart septum, and anomalies may occur. 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, absence of proximal parts of the limbs with normal development of the distal parts, when the hands or feet start directly from the body),
atresia of the esophagus, intestines, anus,
umbilical cord hernia,
biliary atresia,
pulmonary agenesis (absence of one lung),
congenital heart defects,
malformations of the kidneys and urinary tract,
malformations of the central nervous system (anencephaly - absence of the brain, microcephaly - underdevelopment of the brain).

Fetopathies. The fetal period lasts from the 4th week prenatal period before the baby is born. It, in turn, is divided into early - from the 4th month. up to 7 months, and late - 8 and 9 months. pregnancy.

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

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

The following dangerous external factors are known:

Alcohol and drugs often lead to serious disorders and malformations of the fetus, sometimes incompatible with life.
Nicotine can cause delays in the growth and development of a child.
Medications are especially dangerous in the early stages of pregnancy. They can cause a variety of developmental defects in the baby. If possible, it is better to refrain from using medications even after the 15th-16th week of pregnancy (exception when this is necessary to preserve 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-rays and radiation are the cause of many fetal malformations.
Occupational hazards of the mother (harmful workshops, etc.), having toxic effects on the fetus - can seriously affect its development.

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

in the first trimester of pregnancy: 6-8 weeks (ultrasound) and 10-12 weeks (ultrasound + blood test);
in the second trimester of pregnancy: 16-20 weeks (ultrasound + blood test) and 23-25 weeks (ultrasound);
in the third trimester of pregnancy: 30-32 weeks (ultrasound + Doppler) and 35-37 weeks (ultrasound + Doppler).

Prenatal diagnostics are becoming increasingly widespread these days, because knowledge about the health of the unborn baby and prognoses are very important for future parents. Knowing about the condition of the fetus, the family, having assessed the situation and their capabilities, can refuse pregnancy.

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

Risk factor

The causes of the disease are not yet fully understood. However, doctors from all over the world came to a unanimous decision. They argue: the older the woman who gives birth, the higher the risk of giving birth to a child with this disease. In this case, the gender of the baby, the age of the father and the living environment do not matter.

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

signs in newborns

The term “syndrome” in medicine means a set of symptoms that appear in a certain human condition. In 1866, scientist and physician John Down grouped a complex of symptoms in a certain group of people with this disease. The syndrome is named after this man.

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. However, most babies show the same signs:

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

These features characterize Down syndrome. Almost all signs are associated with deformation of the skull and facial features, as well as with disorders of bone and muscle tissue. However, there are other signs. They don't happen 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:

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

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

What is not noticeable at first glance

Even the above signs cannot 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 the baby is born. In the future, doctors should pay attention to the following factors:

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

All of them may indicate a chromosomal abnormality. Such signs of Down syndrome in a baby occur 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 this anomaly are very similar to each other. And the features of their parents are usually not visible in their appearance.

Diagnostics

There are several methods to identify this anomaly:

Using ultrasound, the size of the “collar” of the fetus is determined. If subcutaneous fluid appears in this area between the eleventh and thirteenth weeks of pregnancy, then there is a risk of a chromosomal abnormality. However, the technique does not always show correct results.
Combined method. Its essence lies in the fact that it is carried out ultrasound examination and at the same time a special blood test is taken.
Study of amniotic fluid. Women who have been found to be at high risk of having a child with Down syndrome through this procedure should continue further testing to determine the exact result.

Types of deviation

Signs and symptoms of Down syndrome may vary in a newborn. 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. Firstly, this is the so-called familial Down syndrome. It is characterized by the attachment of the twenty-first chromosome to any other. This deviation is quite rare. It occurs in approximately three percent of cases.

Mosaic syndrome occurs when not all cells of the body are present. This anomaly occurs in five percent of patients. Another type of syndrome is duplication of part of the twenty-first chromosome. The pathology is rare. This deviation is characterized by the division of some chromosomes.

Signs in the fetus

Newborn babies with Down syndrome are quite common. Signs can be identified not only in the newborn baby, but also in the fetus. This deviation, as already mentioned, can be seen on an 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 You can notice not only this pathology, but also others. But patients must understand that it is impossible to accurately detect the disease in the fetus. It has been proven that 5% of signs seen on ultrasound may be false.

Newborns with Down syndrome: signs in a child

Many parents are too confused appearance their baby. However, there may be many other things hiding behind this. serious problems. Such children are susceptible to many diseases. They may suffer from the following ailments:

Retarded mental and physical development.
Visual and hearing impairments that can appear completely unexpectedly.
Delays in the development of fine motor skills.
Excessive mobility of bones, joints and muscles.
Very low immunity.
Problems with the lungs, liver and digestive system.
heart and blood diseases, including leukemia.

Correct solution

Thanks to modern technologies, the woman learns about the presence of chromosomal pathologies in the fetus. On early the mother can terminate the pregnancy, thereby depriving the unborn baby of life. Down syndrome is not fatal disease. But the child’s mother can determine his and her fate in advance. Today, this chromosomal anomaly is quite common occurrence. You may 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 his 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:

Children with Down syndrome are quite learnable, although they have developmental delays. To do this you need to use special programs.
Such children develop much faster if they are in a group with ordinary peers. It is better if they are raised in families rather than in specialized boarding schools.
After school, patients with an abnormality of the twenty-first chromosome may well receive higher education. Don't focus too much on your child's illness.
"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.
Thanks to new medical inventions, such people can extend their lives to fifty years.
You shouldn’t take the blame for being born.” sunny child" Even quite healthy women can give birth to such a baby.
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 were indicated in this article) allows children to grow, develop and enjoy life. Our task is to provide them with support, attention and love.

Passing through birth canal, the whole body of the child is very strongly compressed, as a result of which the newborn’s head may have asymmetry, and the face may have swelling.

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 they should not frighten young parents.

The main cause of deformation, as already mentioned, is the process of the little man passing through the birth canal. The fact is that the bones of the child’s skull are forced to shift slightly relative to each other during this difficult journey. 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 fruit.

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 baby, you can easily detect the so-called fontanelles. They are a soft area of skin between the bones of the skull; when you press lightly with your finger on such areas, 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 fontanelles tighten; As a rule, by the age of one year they completely disappear.

Newborn baby's face

In the first hours after birth, the newborn’s face 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 nose area), behind the ears there are small accumulations of a special secretion in the form of white/yellowish dots, thanks to this lubricating secretion it was easier for the child to pass through the birth canal. You shouldn’t remove such accumulations yourself; they will go away on their own over time.

We should also talk about the nose of a newborn. Immediately after birth, this olfactory organ will be slightly flattened and may appear to be very large. This condition, again, is explained by the journey that the baby had to go through. In a couple of days, the baby’s nose will become neat.

In the very first minutes after birth, all nasal cavity newborn filled amniotic fluid, which doctors remove themselves using a special suction. The baby's nasal cartilages are very soft. The nasal passages are relatively narrow, have a large number of blood vessels, therefore, if the vessels dilate (i.e., the mucous membrane swells), then the baby’s breathing becomes significantly more difficult. If breathing is difficult, the baby will often pause during feeding to inhale air through the mouth. inevitable.

Experts say that a newborn is able to distinguish smells almost immediately after birth. Even they can boast of a good sense of smell. In this regard, a young mother should remember: experiments with eau de toilettes/deodorants are best left 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 the birth process, not only the bones of the skull, but also the bones on the child’s face shifted. A young mother will not find such a face attractive, but by the time she is discharged, the baby’s skin will have time to smooth out and he will appear before his dad (and other relatives) in his very beauty.

Attention!
Use of site materials " www.site" is possible only with the written permission of the Site Administration. Otherwise, any reprint of site materials (even with a link to the original) is a violation Federal Law RF "On Copyright and Related Rights" and entails trial in accordance with the Civil and Criminal Codes Russian Federation.

ANSWERS ON QUESTIONS

The concepts “congenital” and “hereditary” are not identical. Not everything “innate” is “hereditary”. Congenital pathology can occur during critical periods of embryogenesis under the influence of external environmental teratogenic factors (physical, chemical, biological, etc.) - embryo- 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 appear not only from birth, but sometimes a long time later.

Risk factors for the birth of children with developmental defects of various origins are considered to be: the age of the pregnant woman over 36 years, previous births of children with developmental defects, spontaneous abortions, consanguineous marriage, somatic and gynecological diseases of the mother, complicated pregnancy (threat of miscarriage, prematurity, postmaturity, breech presentation , oligohydramnios and polyhydramnios).

Deviations in the development of an organ or organ system can be severe with severe functional deficiency or cosmetic defect. They are detected during the newborn 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 stigmas of disembryogenesis.

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

Pheno- and genocopying, 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 conventional threshold by 2-3 times or more. There is a certain parallelism between the increasing level of stigmatization and the severity neurological syndromes, their tendency to convulsive reactions, liquorodynamic disorders and cerebral edema. Correct assessment of dysplastic developmental features allows a newborn to be classified as at risk for emergency conditions and take this into account when observing him.

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

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

List of dysplastic stigmas

Neck and torso: short, absent, wing-shaped 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 face profile, depressed bridge of the nose, transverse fold on the forehead, low standing eyelids, pronounced brow ridges, wide bridge of the nose, deviated nasal septum or bridge of the nose, cleft 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 grooves, sockets on teeth, malocclusions, supernumerary teeth, sawtooth teeth, awl-shaped incisors, inward growth of teeth, groove on alveolar process, short palate, narrow palate, gothic palate, vaulted palate, sparse teeth, stained teeth, tongue protrusion, forked tip, shortened frenulum, folded tongue, macroglossia, microglossia.

Ears: located high, located low, located asymmetrically, microtia, macrotia, additional, flat, fleshy ears, “animal ears”, attached lobes, absence of lobes.

Spine: additional ribs, skol^z, sacralization of Lv, dorsalization of TVn, vertebral fusion.

Hand: arachnodactyly, clinodactyly, short wide hands, curved terminal phalanges of the fingers, camptodactyly, oligodactyly, brachydactyly, transverse palmar groove, clinodactyly, sandal fissure, symphalangy, 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 traits create serious developmental difficulties as the child grows. For example, a deviated nasal septum makes it difficult nasal breathing and creates the prerequisites for a number of features of the development of the central nervous system; malocclusions disrupt the act of chewing and create preconditions for dysfunction gastrointestinal tract; delayed development of the eyes and ears (impaired vision 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 on the basis of congenital hereditary microanomalies.

For many developmental defects there are no reliable differences between phenocopy and hereditary lesion. At the same time, determining the role of heredity and 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 careful collection of genealogical history, information about the course of ante-, intra- and postnatal periods, although identifying a specific damaging agent in specific cases is a very difficult task.

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

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

Multifactorial defects include: congenital hip dislocation, clubfoot, cauda equina, nonunion 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 has been clearly established, which best corresponds to the hypothesis of polygenic inheritance with a threshold effect.

Unlike monogenic (dominant or recessive) traits with full 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 people in the family increases, depending on the severity of the defect. For many malformations, there are marked sex differences in the incidence of the lesion.

In the neonatal period, gross structural and numerical chromosome abnormalities are usually diagnosed.

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

The most common chromosomal aberration syndromes are:

Monosomy, CO (Shereshevsky-Turner syndrome) - short neck, pterygoid folds of the neck, lymphatic edema of the distal extremities, congenital heart defects (coarctation of the aorta, ventricular septal defect), etc. Subsequently, sexual infantilism, short stature, and primary amenorrhea appear.

The following trisomy syndromes are known:

1) 13-15 (Patau syndrome) - craniocephalic dysplasia (microcephaly, arinencephaly, agenesis of bone beams; cleft lip, mandible and palate; congenital deafness, developmental defects auricle; eye defects; heart and kidney defects; arthroglu-like changes in the fingers, polydactyly or four-fingered fingers; splitting of the abdominal walls; aplasia of the nasal bones;

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

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

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

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

Diagnosis of disaccharidase deficiency is based on a complex of laboratory and biochemical studies. Stool reaction 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 varying degrees of decreased activity of the enzyme galactose-1-phosphate-uridyltransferase. As a result, galactose and galactose-1-phosphate (Ga-1-phosphate), 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 suppressive effect of Ga-1-f on glucogenolysis.

The toxic effect of Ga-1-f damages the central nervous system, red blood cells, the lens of the eye, liver, and kidneys.

In severe cases, signs of the disease appear in the first days and weeks of life. The newborn is reluctant to accept milk. Anorexia, vomiting, bloating, dyspepsia, lethargy (hypoglycemic manifestations) and persistent jaundice are characteristic. At first, jaundice resembles physiological jaundice, 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 (thick consistency, ascites, splenomegaly, etc.). The child is not gaining weight and height well. Typical neurological symptoms are lethargy, adynamia or agitation, anxiety, and convulsive syndrome. Brain swelling occurs. Sometimes symptoms of bleeding are added, since 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 are hemolyzed. Proteinuria (globulinuria of tubular origin), aminoaciduria, and mellituria are noted in the urine. Cataracts can be congenital or appear in the 3rd week. In galactosemia, galactose is transformed into galactitol (dulcitol) under the influence of aldolase reductase. Galactitol is not metabolized and plays a pathogenetic role in the appearance of cataracts. Signs of the disease can progress and lead to coma and death over several weeks. More often the course of the disease is longer. Characterized by a lag in psychomotor development.

In mild forms of the disease, symptoms from the gastrointestinal tract are less pronounced, but there are always cataracts and hepatosplenomegaly. The differential diagnostic range 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 origins (hemolytic and non-hemolytic); sepsis and intestinal infections. In addition, it is necessary to differentiate galactosemia from diabetes mellitus. Since there are similarities 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 glucose concentration, and with diabetes mellitus there is an increase.

The 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); reduction in the activity of galactose-1-phosphate-uridyltransferase by 10 times compared to the norm (4.3-5.8 IU) per 1 g of Hb (according to the Kalkar method). A semi-quantitative microbiological Guthrie test with an auxotrophic strain of Escherichia coli is used.

Treatment is effective if 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. 1 month earlier than with artificial feeding, complementary foods are introduced: porridge with meat and vegetable broth, vegetables, vegetable oils and eggs. Strict adherence to the diet is recommended up to 3 years of age. Orotic acid and its salts, as well as testosterone derivatives, have a positive effect on the maturation of galactose-1-phosphate-uridyltransferase.

Enzymopathies of amino acid metabolism represent a large group of practical importance. Disturbances in the metabolism of amino acids are called either aminoacidemia or aminoaciduria, which are divided into excess, non-threshold and transport. With excess aminoaciduria as a result of an innate metabolic block, the amino acid, accumulating in the blood to a certain limit, is excreted in the urine. These include classic phenylketonuria (PKU), tyrosinosis, alkaptonuria, histidinemia, valinemia, leucinosis (“maple syrup 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 caused by the effects of toxic metabolites are detected. In newborns, these changes are nonspecific. Common to all types of amino acid metabolism disorders is convulsive syndrome.

PKU is characterized by a combination of progressive psychomotor retardation with persistent eczematous skin lesions, convulsions and a “mouse” odor of urine, decreased pigmentation of the skin, hair and iris.

Disturbances in tryptophan metabolism (B6-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 vegetables. Some parents talk about the cabbage smell. Delays in mental and physical development and ataxia are noted.

Tyrosinosis - a disorder of tyrosine metabolism - leads to the development of dystrophy, cirrhosis of the liver, rickets-like changes in the skeleton, and damage to the renal tubules. From the first weeks of life, children experience vomiting, diarrhea, retarded physical development, hepatosplenomegaly, and respiratory failure.

In newborns, especially premature ones, in the first days and weeks of life, functional immaturity of many organs and systems is noted; embryopathies that have similar features to hereditary enzymopathies are also common. Often the disease is diagnosed as “birth trauma, posthypoxic encephalopathy.” Ineffectiveness of therapy, 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 requires diagnosis at the biochemical level.

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

The pathology in question is not tied to any particular race or gender. It can occur as an isolated defect or be combined with other developmental defects.

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

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 problems 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 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 medical classification

Today, in medical sources, the disease in question is classified as follows:

1. Dysmorphogenesis

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

There are several types:

Hypogenesis . It is characterized by underdevelopment and shortening of the external structures of the nose: the back, base, wings. Deformations can affect all or one structure, and be one- or two-sided. In rare cases, there may be a complete absence of the above components of the nose. This condition is called in some sources agenesis.
Hypergenesis . The cartilaginous or bone tissues here are quite large. This group of deformities includes a wide, too long nose, as well as an extensive tip of the nose.
Dysgenesis . Developmental defects are concentrated in the frontal plane. The curvature of the nose can have different shapes (skewness, 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 external part of the nose : solitary neoplasms at the base of the nose, which contain fatty glands and hair; lateral/median cleft nose; forked tip of the nose.
Intranasal anomalies : separation - or complete separation - of the turbinates from each other; atresia of the nasal passages.

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 may be equipped 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 glandular secretion inside. In the future, purulent infiltrate may accumulate in such blisters, 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.
Blueness of the nasolabial triangle.
Discomfort when swallowing.
Choking and respiratory failure can develop in particularly difficult cases.
The passage of food out through the nasal passages during feeding.
The newborn is constantly restless and sleeps poorly.

Dystopia, unlike other congenital nasal defects, manifests itself more clearly. The patient experiences 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 and 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 neonatologist through the following measures:

Questioning the mother about diseases suffered during pregnancy, determining the moment of genetic predisposition. The presence of harmful factors that can affect the development of the fetus plays an important role.
Examination of a newborn to identify deformations of the facial skull. In case of serious nasal defects, these modifications will be visible.
Laboratory tests 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 intended to examine the condition 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.
Fiberendoscopy. 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 examine pathological changes in the nose that cannot be identified with a superficial diagnosis. In some cases, a contrast agent may be additionally used.
. 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 patency of the nasal passages.
MRI. Prescribed in exceptional cases when there are suspicions of disturbances in the functioning of the brain.

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

The pathology in question is treated exclusively by surgery.

If there is complete absence of patency of the nasal cavity, the infection is pierced, and a catheter is inserted into the formed hole.

During surgical manipulation in infants, 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 intended localization of atresia.
This defect is eliminated using a medical chisel, and a thermoplastic tube is inserted into the formed lumen to provide drainage.

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

In parallel with this, can be carried out microsurgical manipulations on intranasal structures which help preserve the sense of smell.

For less pronounced deformations plastic surgery may be postponed, but the decision is always made by the doctor.

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