Wide bridge of the newborn's nose, which specialist should I contact? Differential diagnosis of hereditary forms of growth retardation in children

Congenital pathology in the form birth defects development may 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 having 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. 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 which case a dysplastic constitution can be stated. 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 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 nose, curved nasal septum or nasal wall, cleft chin, small size of the 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, accessory, 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 have chromosomal abnormalities, that is, associated with a mutation of a chromosome or gene, and 5% have a 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, nonunion hard palate And upper lip, anencephaly (complete or almost complete absence of the brain), congenital heart defects, 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 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 congenital pathology, which 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);
• age expectant mother more than 35 years;
• the presence of CFTR gene mutations in future parents;
• the woman had missed abortions, spontaneous miscarriages or stillborn children unknown origin in the anamnesis (history).

If necessary, the geneticist suggests that the expectant mother undergo 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 big tongue, transverse fold in 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 with 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.

The possibilities for early detection of hereditary diseases have significantly expanded with the introduction of prenatal diagnostic methods into practice. Most fetal diseases are diagnosed by examining 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 genital organs are laid down, lymphatic system, spleen, formation of the umbilical cord.

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

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 of the 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 fetal pathology is detected by different terms pregnancy, therefore the expectant mother needs to undergo timely examinations by doctors within the recommended time frame

• 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.

The child spends the first nine months of its development in the absolute darkness of the mother's womb. After birth, light fills the space around him, and over the next few months the baby tries to understand everything he sees.

First of all, he needs to learn to coordinate the movement of his eyes. True, this does not work for children immediately after birth. Most newborns cope within six weeks. Even if one eye continues to disobey, parents may not worry about this for up to three months.

Sometimes parents sound the alarm, suspecting their child has strabismus. This is especially noticeable when, when looking straight ahead, the baby’s eyes converge towards the bridge of his nose. The parents may be right, but perhaps this is due to the fact that the child's nose bridge is too wide. Folds of skin coming from upper eyelid to the bridge of the nose are called epicanthus, and if they are too wide, it can look a lot like squint. However, if these folds are turned inward towards the nose, the illusion of squint disappears and it becomes clear that the eyes move synchronously in the same direction.

With true strabismus, one eye moves independently and attracts attention when the child looks sharply to the side. Strabismus is usually inherited. Therefore, if one of the relatives has strabismus, the child should be under special supervision. Strabismus is usually caused by weakness in one of the six eye muscles, setting in motion eyeball. Although myopia or farsightedness can also provoke this deviation. You can determine strabismus by observing the reflection in the eyes of a bright, distant object, such as a window. With strabismus, this object will be reflected in only one eye.

In addition to the fact that strabismus does not decorate the face, it affects the child’s vision. The work of the brain is concentrated mainly on the healthy eye, and the oblique eye seems to remain unattended. If this eye is left untreated, the child may develop amblyopia, or blindness in one eye. Therefore, it is extremely important, upon discovering strabismus, to immediately begin its examination and treatment.

The type of strabismus described above is the most common. And it appears and then disappears. Sometimes both eyes move and look synchronously and in parallel, but sometimes one eye begins to deviate. Much less common is fixed strabismus, when the squinting eye constantly moves independently, separately from the healthy eye. In this condition, the most serious measures are necessary, since fixed strabismus often indicates a disease of the ocular media or the central nervous system.

What can you do?

First of all, if you notice strabismus in a child, pay attention to the width of the bridge of the nose. This may not be true strabismus. In any case, before your child starts school, have his eyes checked by a doctor every year. If the doctor confirms strabismus, the child should be referred to a specialist.

What can a doctor do?

The most common cause of strabismus is weakness of one of the muscles that moves the eyeball. You can force weak eye work covered with a bandage healthy eye. Like all other muscles, the weak eye is strengthened by this training, and within a few weeks or months the weak eye begins to move normally.

In the most severe cases, surgery can be done to change the length. weak muscle so that the slanted eye does not lag behind the healthy one and works normally. Strabismus surgery is usually performed at age six or seven to prevent possible blindness in the affected eye. In cases of nearsightedness or farsightedness, glasses help to correct this lack of vision, which sometimes leads to strabismus.

If you don't know this yet, remember the following:

• Up to three months, all babies experience strabismus.
• Treatment of true strabismus is carried out only by an ophthalmologist.
• Surgery to correct strabismus should be performed before the age of six or seven to prevent blindness in the affected eye.

Yulia Kamalova, student at the British high school design, became the winner national stage international competition young engineers James Dyson Award 2016. Yulia’s design of a nest for phototherapy of newborns, SvetTex, allowed her to win the first stage of the competition. The invention of SvetTex is capable of creating the maximum comfortable conditions treating infants and protecting the eyes of young patients from glare during phototherapy. In addition, it protects medical...

Discussion

No specialist at 10 months, based on an external examination, can confirm or refute the diagnosis of FAS. Both are unprofessional - the one who said that FAS exists, and the one who said that there is no FAS. With a developmental delay of 10 months. for 4 months, that is, almost 40% FAS may well be. it may not be. If it is unknown whether the mother drank, it is USELESS to make predictions.

08/18/2010 11:23:52, Natalya L

It’s good that you were firm and found a cardiologist!

Heart disease and ischemia were also in my chart, and there... one more thing... in general terms (movement disorders, developmental delay and you go - it didn’t tell me anything specific, but I’m a specific person).
LLC was, 3mm, false chord. Strabismus - yes. Joint dysplasia, which was listed in the questionnaire, is not b-y-l-o

Thank God that we didn’t come across doctors like your pediatrician.

However, to be honest, I wasn’t going to listen to the doctors at all on the topic of whether to take it or not (the children were already at home when we examined them), so I ignored a lot of things, even if the doctors had something to tell me.

I was only interested specifically in what I absolutely had to do now.

How to properly care for a newborn's belly button
...The umbilical wound gradually heals, becoming covered with a hemorrhagic (dense “bloody”) crust. If the child continues to be in the maternity hospital at this time, then the umbilical wound is treated in the same way as before the umbilical cord remnant - once a day. With wide umbilical wound, possible sparse bloody secretions Your doctor may prescribe more frequent treatment. As with any wound, the hemorrhagic crust that forms on the umbilical wound gradually disappears. If healing proceeds well, then after the thick crust falls off there is no discharge from the wound. Sometimes, when a large crust falls off (this happens with a wide umbilical wound), droplets of blood may be released, the wound is “undercovered...

Jaundice of newborns. Newborn

Types of jaundice in newborns. Causes of jaundice, treatment of jaundice
...That's why doctors in maternity hospitals carefully monitor the level of bilirubin in the blood of all newborns. When jaundice appears, newborns should be given this test 2-3 times during their stay in the maternity hospital to determine whether there is an increase in the concentration of bilirubin in the blood. The mother may ask whether such tests were taken from the child. To treat hyperbilirubinemia (increased levels of bilirubin in the blood), intravenous transfusions of a 5% glucose solution (it is a precursor of glucuronic acid, which binds bilirubin in the liver) were previously widely used. ascorbic acid and phenobarbital (these drugs increase the activity of liver enzymes), choleretic agents (they accelerate the excretion of bilirubin with bile), adsorbents (agar-agar, cholestyramine) that bind bilirubin in the intestine and prevent its reabsorption. ABOUT...

This is why the baby trains its arms and legs inside its mother’s belly in order to learn how to use them after birth. Wouldn't it be violence against nature if we began to restrict his freedom? In general, it is human nature to think that he is smarter and wiser than nature. So what if, in the process of evolution, mammals came to land to give birth to their children? We inevitably have the opinion that the continuation of the water environment is better for the newborn baby than falling into the air, and we go to give birth in the water. So what, what does a person’s dentition say about his adaptability to omnivory (a combination of herbivorous and predatory lifestyles)? For us, this is not an argument, and we come up with a theory about the contamination of the body with toxins when eating meat, about achieving special spiritual growth by refusing it - and we turn into vegetarianism...

Discussion

And I'm swaddling. More precisely, she swaddled until 2.5 months. Convenient and all that. They almost immediately stopped using diapers at night - it was unpleasant to sleep wet, so I only pooped before or during night feedings. True, everyone told me that I was swaddling incorrectly - too weakly, I always pulled my hands out. He kicked his legs inside calmly. Now the diapers are already on the bed and sometimes when the onesies are all wet. He climbs out of them once or twice. I will say a few words in defense of diapers - 1. Cheaper than diapers and onesies. 2. More comfortable than wearing rompers or a bodysuit (can you imagine how to take off a bodysuit if you pooped over your head?) 3. The butt breathes. Especially in blue diapers.
And in addition I will say: why limit yourself to only swaddling or only diapers, if it is more reasonable to use both? For example, in the morning, in order to get enough sleep and not change diapers every 5 minutes, use a diaper, and at night and while walking? And the rest of the time, diapers and rompers.

2. The presence at the same time of several signs characteristic of FAS (they have already been described below), and again there are problems in the child’s development.

In addition, there is different degrees FAS: Intelligence may or may not be affected or may be partially affected. Problems in behavior are possible, but again - different.

In general, in any case, you need to look at the child: watch how he understands and remembers/applies new information and skills; look at how disinhibited he is in his behavior (whether this is acceptable for you or not); and look especially carefully to see if you just like him (believe me, if you really like a child, problems are experienced and solved easier).

A neurologist noticed me today and referred me to a geneticist in Filatovka. An extra fold on the palm - what kind of animal? Has anyone encountered this?

Discussion

SD is usually so clearly visible different signs that it can be installed immediately after birth. The child is at least “ugly”. Even the mother herself can see all these signs when comparing the child with other newborns.
Therefore, I think you are not in danger of SD, since no one immediately suspected anything.
But what another gene. There may well be a pathology. And this fold is rare, but it also happens in children who are absolutely healthy in terms of genetics. What I sincerely wish for you!

How can one suspect the presence of Down syndrome in a newborn?

In such children, attention is drawn to the Mongoloid shape of the eyes, the skin fold in inner corners eyes, wide bridge of the nose, deformed ears, flattened back of the head. They are a little smaller than normal size oral cavity and the tongue is slightly enlarged, which is why children can stick it out. The fingers are shortened, the little fingers are curved, and there can be only one transverse fold on the palm. On the legs the distance between the first and second toes has been increased. The skin is moist, smooth, the hair is thin and dry. Muscle tone, is often reduced, which causes another characteristic feature- mouth constantly slightly open.
Often these signs are so weakly expressed that they can only be noticed by experienced doctor or midwife.
If you suspect that your baby has Down syndrome, it is necessary to conduct chromosomal tests to confirm the diagnosis.

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.
• Observed decreased tone muscles.
• 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.
• 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, 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:

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 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 dark 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:

1. 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.
2. 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.
3. 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, a woman learns about the presence of chromosomal pathologies in the fetus. At an early stage, the mother can terminate the pregnancy, thereby depriving the unborn baby of life. Down syndrome is not a fatal disease. But the child’s mother can determine his and her fate in advance. To date this chromosomal abnormality- This is enough 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:

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 group with ordinary peers. It is better if they are raised in families rather than in specialized boarding schools.
3. 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.
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 to fifty years.
6. You shouldn’t take the blame for being born.” sunny child" 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 were indicated in this article) allows children to grow, develop and enjoy life. Our task is to provide them with support, attention and love.

The pathology in question is not tied to any a certain race or semi. 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 negative influence environment, bad habits, some other factors on the health of the expectant mother, who is 6-12 weeks pregnant.

External defects of the nose are not only 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 baby's nose:

• 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 . Characterized by underdevelopment, shortness external structures nose: back, base, wings. Deformations can affect all or one structure, and be one- or two-sided. IN in rare cases There may be a complete absence of the above components of the nose. Similar condition in some sources they are called agenesis.
• Hypergenesis . Cartilaginous or bone tissue here they have quite big sizes. This group of deformations includes a wide, too a long nose, as well as an extensive nasal tip.
• Dysgenesis . Developmental defects are concentrated in the frontal plane. Curvature of the nose may be different shape(slanted nose, S-shaped deformation, side 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 on 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 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.
• Suffocation, respiratory failure may 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 has constant accumulation 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 internal structures 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 explore pathological changes noses, which superficial diagnostics impossible to detect. In some cases, a contrast agent may be additionally used.
• . Gives you the opportunity to get full picture regarding 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.

At complete absence 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 development alveolar process 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 before excision in mandatory are being researched 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 must also be present at the operation.