Big eyes and a wide bridge of the nose in a child. Wide nose bridge in a newborn

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

risk factor

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

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

signs in newborns

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

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

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

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

Less common signs

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

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 at a great distance from the others. And on the foot under it there is a crease.

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

What is not noticeable at first sight

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

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

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

Diagnostics

There are several methods to detect this anomaly:

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

Types of deviation

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

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

Signs in the fetus

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

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

Newborn children with Down syndrome: signs in a child

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

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

Correct solution

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

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

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 team with ordinary peers. It is better if they are brought up in families, and not in specialized boarding schools.
After school, patients with an anomaly of the twenty-first chromosome may well receive higher education. Do not focus too much on the child's illness.
"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 up to fifty years.
Do not take the blame for the birth of " solar baby". 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 have been identified in this article) allows children to grow, develop and enjoy life. Our task is to give them support, give attention and love.

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

First of all, he must learn to coordinate the movement of his eyes. True, immediately after birth, children do not succeed. Most newborns complete the task 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 a strabismus in a child. This is especially noticeable when, when looking straight ahead, the baby's eyes converge to the bridge of the nose. The parents may be right, but perhaps this is due to the fact that the child has a too wide bridge of the nose. Folds of skin coming from upper eyelid towards the bridge of the nose are called the epicanthus, and if they are too wide it can look a lot like a strabismus. However, if these folds are turned inward towards the nose, the illusion of strabismus disappears and it becomes clear that the eyes move in synchrony in the same direction.

In true strabismus, one eye moves on its own and draws attention to itself 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 of one of the six eye muscles that set 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 vision of the child. The work of the brain is concentrated mainly on a healthy eye, and the oblique eye, as it were, is left without attention. If this eye is left untreated, the child may develop amblyopia, or blindness in one eye. Therefore, it is extremely important, having discovered strabismus, to immediately begin its examination and treatment.

The type of strabismus described above is the most common. And it appears and disappears. Sometimes both eyes move and look in sync and parallel, but sometimes one eye starts to deviate. Much less common is fixed strabismus, where the oblique eye constantly moves on its own, separate 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 a strabismus in a child, pay attention to the width of the bridge of the nose. It 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 in one of the muscles that move the eyeball. Can be forced weak eye work with a bandage healthy eye. Like all other muscles, a weak muscle is strengthened as a result of such training, and within a few weeks or months the weak eye begins to move normally.

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

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

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

The expectation of 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 most or one of the happiest moments in her life. But sometimes the twists of fate are very sharp, and not everyone is able to stay in the saddle.

It is worthwhile for doctors who take birth or examine a newborn in the first days of his life to suspect a child with Down syndrome, as the heart of the parents does not find peace. We would like to warn you right away that appearance baby, the presence of this pathology is not diagnosed. However external signs Down syndrome are so characteristic that an experienced midwife is able to 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 signs that develop in a particular state of a person. Such a complex common symptoms in the same patients in 1866, John Down noticed, after whom this syndrome is named. With Down syndrome, even at the stage of intrauterine laying and fetal development, chromosomal disorder but reveal genetic cause and the nature of this phenomenon was succeeded only a century after Down's discovery of patterns in the combination of identical signs.

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

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

the face looks flattened, flat compared to the faces of other newborns;
a skin fold forms on the neck;
at the inner corner of the eyes, the so-called “Mongolian fold” (or third eyelid) is formed;
the corners of the eyes are raised, the incision is oblique;
earlobes are small auricles deformed, the auditory passages are narrow;
"short" head (brachycephaly);
flattened nape;
muscle tone is reduced;
the joints are excessively mobile, dysplasia is formed;
the 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 is flat and wide;
the height and weight of the child is below average, with age there is a tendency to gain excess weight.

Most of the differences are associated with skull deformities and features of the facial features, as well as imperfections in the muscular 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 downy from infancy:

the small mouth (jaws) of the child remains ajar all the time;
the child is diagnosed with an arched narrow palate;
large tongue protruding from the mouth (due to reduced compared to regular sizes oral cavity and decreased muscle tone).
the chin is smaller than usual;
the little finger is curved and usually bends towards the ring finger;
the formation of furrows (folds) in the tongue (manifested as the child grows);
flat bridge;
the neck is shortened;
short nose, wide bridge of nose;
a horizontal fold is formed on the palms (“monkey line”) - due to the merger of the lines of the heart and mind;
the big toe is located at a distance from the other fingers (a sandal-shaped gap is formed), and a fold forms on the foot under it;
further examination often reveals malformations of the cardiovascular system.

What other signs of Down syndrome are there in newborns?

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

strabismus;
pigmented spots along the edge of the iris of the pupils ("Brushfield spots") and clouding of the lens;
violation in the structure of the chest, it bulges anteriorly or sinks inward (keeled or funnel-shaped chest);
tendency to epileptic seizures;
stenosis or atresia duodenum and other malformations of the digestive system;
defects of the organs of the genitourinary system;
congenital blood cancer (leukemia).

These signs occur in 8-30% of all cases. Also an infant with this chromosomal abnormality may have an extra fontanel or the fontanelles do not close for a long time. But a newborn child with Down syndrome may also not have bright characteristic external features: the 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 parental features in their faces.

Diagnosis of Down syndrome in newborns

Most of the symptoms 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 not related to the described syndrome. And therefore, only on the basis of the presence of one or another symptom or a combination of several of them, the diagnosis of Down syndrome is not made. For an accurate medical conclusion, it is necessary to take a blood test for a karyotype, and only he can confirm or refute the presence this syndrome The child has.

Down syndrome has no gender preferences: both boys and girls are born equally often with an extra chromosome. But in addition to the features mentioned here, they have one more thing: experts say that downyats teach true love! No other child gives as much warmth, affection, sincerity, love and attention as they do. But exactly the same amount these special children require 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! That's just almost entirely their future depends on you and me, adults. After all, it is not their fault that they were born special.

Especially for - Margarita SOLOVIEVA

Julia Kamalova, student of the British high school design, won national stage international competition young engineers James Dyson Award 2016. Yulia's SvetTex neonatal phototherapy nest project made her win the first stage of the competition. The invention of SvetTex is able to create the maximum comfortable conditions treatment of infants and to protect the eyes of young patients from blinding light during phototherapy. In addition, it protects the medical...

Discussion

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

18.08.2010 11:23:52, Natalya L

It's good that you showed firmness and found a cardiologist!

Mine also had heart disease and ischemia in the chart, and there ... something else ... in general terms (movement disorders, developmental delay and you dy - it didn’t tell me anything specific, but I’m a specific person).
OOO was, 3mm, false chord. Strabismus - yes. Joint dysplasia, which was listed in the questionnaire, not b-s-l-o

Thank God that we did not come across such doctors as your pediatrician.

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

I was only interested specifically: what I must do now.

How to properly care for the navel of a newborn
... 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 residue - once a day. With a wide umbilical wound, possible low sanious secretions more frequent treatment may be prescribed by the doctor. As in the case of any wound, the hemorrhagic crust formed on the umbilical wound gradually disappears. If the healing proceeds safely, 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), there may be a release of droplets of blood, the wound "teared ...

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 occurs, newborns should be given this test 2-3 times during their stay in the hospital to clarify whether there is an increase in the concentration of bilirubin in the blood. Mom may ask if such tests were taken from the child. For the treatment of hyperbilirubinemia (an increase in the level of bilirubin in the blood), intravenous transfusions of a 5% solution of glucose (it is a precursor of glucuronic acid that binds bilirubin in the liver) were widely used in the past, 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), which bind bilirubin in the intestine and prevent its reabsorption. ABOUT...

For this, the baby trains the arms and legs inside the 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 natural for a person to think that he is smarter and wiser than nature. So what, that in the process of evolution, mammals came to land to give birth to their children? We necessarily have an opinion that the continuation of the aquatic environment for a newborn baby is better than getting 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 omnivorousness (a combination of herbivorous and predatory lifestyles)? For us, this is not an argument either, and we come up with a theory about contamination of the body with toxins when eating meat, about achieving special spiritual growth when refusing it - and hit the vegetarian ...

Discussion

And I swaddle. More precisely, swaddled up to 2.5 months. Comfortable and all. They almost immediately stopped using diapers at night - it’s unpleasant to sleep wet, it hiccupped only before or during night feeding. True, everyone told me that I swaddled incorrectly - too weakly, I always pulled out my hands. His legs inside jerked calmly. Now the diaper is already on the bedding and sometimes when the sliders are all wet. Gets out of them once or twice. I will say a few words in defense of diapers - 1. Cheaper than diapers and sliders. 2. More comfortable than wearing sliders or a bodysuit (can you imagine how to take off a bodysuit if you poop over your head?) 3. The priest breathes. Especially in chinese 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, to get enough sleep and not change diapers every 5 minutes, use a diaper, also at night and for a walk? And the rest of the time diapers, sliders.

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

In addition, there different degrees FAS: the intellect may or may not be affected or may be partially affected. Behavioral problems are possible, but again - different.

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

A neuropathologist noticed today and sent me to a genetics specialist. Extra crease on the palm - what kind of animal? can anyone come across?

Discussion

SD is usually so clearly visible in different features that it can be installed immediately after birth. The child is at least "ugly". All these signs can be seen even by the mother herself, comparing the child with other newborns.
Therefore, I think that SD does not threaten you, since no one immediately suspected anything.
But what other gene. pathology may well be. And this fold is rare, but it also happens in absolutely healthy children in terms of genetics. What do you sincerely wish!

But how can you suspect the presence of Down syndrome in a newborn?

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