The child has large eyes and a wide bridge of the nose. Wide bridge of the nose in a newborn

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 of Down syndrome in newborns do 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.
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 dark spots on the pupils;
irregular structure chest;
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 amniotic fluid. Women in whom this manipulation was used to detect high risk birth of a child with Down syndrome, further studies should continue 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 puzzled by the appearance of 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.

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.

Waiting for a child is always shrouded in excitement, euphoria and mystery. Every mother looks forward to the first meeting with her child and firmly believes that this will be the happiest or one of the happiest moments in her life. But sometimes the turns of fate can be very sharp, and not everyone is able to stay in the saddle.

As soon as doctors delivering a baby or examining a newborn in the first days of his life suspect Down syndrome in a child, the hearts of the parents cannot find peace. We would like to immediately warn you that only appearance In a child, the presence of this pathology is not diagnosed. However external signs Down syndrome are so characteristic that an experienced midwife can immediately discern them in a newly born baby.

The most common signs of Down syndrome in newborns

In medicine, a syndrome is a set of symptoms that develop in a particular human condition. Such a complex common symptoms in the same patients, John Down noticed in 1866, after whom this syndrome was named. With Down syndrome, even at the stage of intrauterine anlage and fetal development, chromosomal disorder, but reveal genetic cause and the nature of this phenomenon was discovered only a century after Down discovered a pattern in the combination of identical characteristics.

Many symptoms of Down syndrome in a newborn child are noticeable from birth., and therefore experienced obstetricians are able to recognize the anomaly immediately when delivering birth to a woman. Moreover, this phenomenon is quite common: on average, Down syndrome is diagnosed in one out of 600-800 babies, and among all chromosomal abnormalities this is the most common.

Most children show the following signs from the first days of life:

the face looks flattened, flat compared to the faces of other newborns;
a skin fold forms on the neck;
a so-called “Mongolian fold” (or third eyelid) forms at the inner corner of the eyes;
the corners of the eyes are raised, the incision is oblique;
earlobes are small, ears deformed, auditory canals are narrow;
“short” head (brachycephaly);
flattened nape;
muscle tone is reduced;
joints are excessively mobile, dysplasia forms;
limbs are shortened (compared to the limbs of other children);
the middle phalanges of the fingers are underdeveloped, and therefore all the fingers look short, and the palm looks flat and wide;
The child's height and weight are below average; with age, there is a tendency to gain excess weight.

Most of the differences are associated with deformations of the skull and facial features, as well as with imperfections in the muscles and skeletal systems child. These are signs that occur in 70-90% of all newborns with Down syndrome. Less common, but still not uncommon, are external differences, observed in approximately half of all Downs from infancy:

the child’s small mouth (jaw) remains open all the time;
The child is diagnosed with an arched narrow palate;
a large tongue protrudes from the mouth (due to a reduced size compared to regular sizes oral cavity and decreased muscle tone);
chin is smaller than usual;
the little finger is curved and usually bends towards the ring finger;
the formation of grooves (folds) in the tongue (appears as the child grows);
flat bridge of the nose;
the neck is shortened;
short nose, wide bridge;
a horizontal fold (“monkey line”) is formed on the palms - due to the merging of the lines of the heart and mind;
the big toe is located at a distance from the other toes (a sandal-shaped gap is formed), and a fold forms on the foot underneath it;
Upon further examination, defects of the cardiovascular system are often discovered.

What other signs of Down syndrome are there in newborns?

Just these signs described above may be enough to suspect Down syndrome in a newborn child. But there are still some external differences in such babies that “pop up” during a more detailed examination and examination of the baby, which may indicate this chromosomal disorder:

strabismus;
pigment spots along the edge of the iris of the pupils (“Brushfield spots”) and clouding of the lens;
a violation in the structure of the chest, it protrudes forward or sinks inward (keeled or funnel-shaped chest);
tendency to epileptic seizures;
stenosis or atresia duodenum and other defects of the digestive system;
defects of the genitourinary system;
congenital blood cancer (leukemia).

These signs occur in 8-30% of all cases. Also a baby with this chromosomal abnormality may have an extra fontanelle or the fontanelles do not close for a long time. But a newborn child with Down syndrome may also not have clear characteristic external features: differences will appear later.

It is noteworthy that children with Down syndrome are very similar to each other, like brothers and sisters, while it is impossible to recognize the parental features in their faces.

Making a diagnosis of Down syndrome in newborns

Most of the signs described in this article may accompany some kind of disease, other disorder, or even be physiological norm, which is simply a feature of a newborn baby and is not related to the described syndrome. Therefore, a diagnosis of Down syndrome cannot be made solely on the basis of the presence of one or another symptom or a combination of several of them. For an accurate medical conclusion, it is necessary to take a blood test for karyotype, and only this can confirm or refute the presence of this syndrome The child has.

Down syndrome has no gender preference: boys and girls are born with an extra chromosome equally often. But in addition to the features mentioned here, they have one more: experts say that downyats teach true love! No other child gives as much warmth, affection, sincerity, love and attention as they do. But these special children demand exactly the same amount from their parents in return.

Therefore, if mom and dad feel in themselves humanity, humanity, kindness and love, love for their flesh and blood, then there is no reason to be tormented in despair. Yes, you may have to put in a little more effort and energy than other parents need. But children with Down syndrome can live full life, experience moments of joy and happiness, achieve success and victories! It’s just that their future depends almost entirely on you and me, adults. After all, it is not their fault that they were born special.

Especially for - Margarita SOLOVIOVA

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. Their mouth cavity is slightly smaller than normal and their 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.