Wide bridge of nose and small nose in a child. What are the signs of Down syndrome in newborns? Chromosomal genetic malformations of the fetus

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

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

Deviations in the development of an organ or organ system can be gross with severe functional insufficiency or cosmetic defect. They appear during the neonatal period birth defects development). 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 as constitutional features in cases where they have excess accumulation(more than 7) in one child, give rise to such a syndromic diagnosis as dysplastic status.

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

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

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

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

List of dysplastic stigmas

Neck and torso: short, absent, pterygoid folds; short, long, short clavicle, funnel-shaped rib cage, "chicken" chest, short sternum, multiple nipples, asymmetrically located nipples.

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

Head and face: macrocephalic skull, dolichocephalic, tower, oxycephaly, scaphocephaly, cebocephaly, flat occiput; low forehead, narrow forehead, flat face profile, depressed bridge of the nose, transverse fold on the forehead, low standing eyelids, pronounced brow ridges, wide bridge of the nose, warped nasal septum or bridge of the nose, cleft chin, microstomia, micrognathia, prognathism, receding chin, wedge chin, macrognathia, hypertelorism.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The most common syndromes of chromosomal aberrations are:

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

The following trisomy syndromes are known:

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Not all parents know that strabismus in breasts is often physiological. In order to understand when you should immediately go to the doctor with such a problem, and in which case you should not worry, you need to understand why this happens.

What is the norm?

In an adult, the axes of the eyes normally completely coincide. Deviation from this is called strabismus, or strabismus. There is another clinical name - heterotropia. There are two main types of strabismus:

convergent. In this case, one or two eyes are beveled to the bridge of the nose. In infants, this type is observed (in 90% of cases).
Divergent. One or both eyes move to the temple.

As a result of the fact that a newborn baby often has weakness of the oculomotor muscles, for this reason, heterotropia develops.

He is not always able to control the movement of the eyeballs at birth. It is important for parents to know when this phenomenon passes, since such a process cannot be started.

Eye divergence persists only in 9% of seven-year-old children of the total number of babies with strabismus. Over time, the muscles of the eyes become stronger, and nothing reminds that the baby had strabismus.

The structural features of the bones of the skull and the wide bridge of the nose also lead to the fact that the child has some deviation. It goes away in a few months.

Causes of pathological strabismus

But there are a number of cases in which normalization does not occur. The causes of this pathology can be:

birth complications;
lack of oxygen during fetal development;
infection and intoxication of the fetus;
transferred measles, scarlet fever or influenza;
neurological abnormalities;
hereditary predisposition;
improper placement of toys above the bed.

Psycho-emotional stress (screaming, bright light, etc.) can lead to the temporary appearance of strabismus in a newborn.

If strobism is observed for more than six months, then it leads to impaired visual acuity and the development of amblyopia.

When to go to the doctor?

Despite the fact that strabismus can disappear even a month after birth, or after three, but normally a six-month-old baby should not experience such a phenomenon.

It is at this age that strabismus refers to a pathological condition, and is the reason for going to the doctor.

There are the following types of disease:

according to the time of appearance - congenital or acquired;
permanent and temporary;
unilateral or intermittent;
convergent, divergent and vertical.

Separately, it is necessary to highlight the paralytic type, in which the eye does not move in a certain direction as a result of damage to the muscle or nerve.

How to prevent illness?

In order for strobism not to cause vision loss, there is prevention of strabismus in infants.

If a baby at the age of one month has strabismus, then the following must be done:

Hang bright toys over the center of the crib at a distance at which the baby could not reach them with a pen.
Toys should only be large.
Do exercises to strengthen the muscles of the eyes. To this end, you need to take a large and bright rattle and drive it from side to side so that the baby follows it with his eyes.
At the age of two months, undergo a scheduled examination by a specialist and follow all his recommendations.

Treatment

There are currently 25 types of strabismus. For this reason, only a specialist should deal with its treatment. In each case, only an individual approach is applied.

You should not start such a disease, because gradually vision can drop sharply.

Once diagnosed, treatment is as follows:

Until all symptoms are completely eliminated, the child is selected for correction glasses or soft lenses.
To improve the functioning of the affected eye, the occlusion method is used. It consists in closing the healthy eye for a while, making the sick one work.
A variety of techniques are used to restore binocular vision.
If the child is four years old, then orthopedic and acupuncture are used in complex treatment.

When a paralytic form of strobism is detected, a consultation with a pediatric neurologist is necessary!

If it doesn't work, your doctor may recommend surgery. It is performed under general anesthesia. After that, the child undergoes rehabilitation and strengthens the eye muscles with the help of special exercises.

The presence of strabismus in a newly born baby is not a cause for panic; for the first few months of his life, he cannot focus his eyes.

But in most cases, by 4-6 months, this phenomenon disappears without a trace. Proper prevention will help to avoid the transition of physiological strabismus into pathology.

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. The folds of skin that run from the upper eyelid to the bridge of the nose are called the epicanthus, and if they are too wide, it can look a lot like strabismus. However, if these folds are turned inward toward the nose, the illusion of strabismus disappears and it becomes clear that the eyes move synchronously 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 in one of the six eye muscles that move the 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. You can make the weak eye work by covering the healthy eye with a bandage. 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 can be done to change the length of a weak muscle so that the oblique 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 years 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 want to immediately warn that the presence of this pathology is not diagnosed only by the appearance of the baby. However, the external signs of 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 of common symptoms in the same patients in 1866 was noticed by John Down, after whom this syndrome is named. With Down syndrome, even at the stage of intrauterine laying and fetal development, a chromosomal disorder occurs, but it was possible to identify the genetic cause and nature of this phenomenon only a century after Down discovered 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;
the earlobes are small, the auricles are deformed, the auditory canals 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 deformities of the skull and features of the facial features, as well as with the imperfection of the child's muscular and skeletal systems. These are signs that occur in 70-90% of all newborns with Down syndrome. Less common, but still not uncommon, are external differences that are observed in about 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;
a large tongue is protruded from the mouth (due to a reduced oral cavity compared to the usual size and reduced 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 of the 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 anomaly 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 signs described in this article may accompany some kind of illness, another violation, or even be a physiological norm, which is simply a feature of a newborn baby and is 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 of this syndrome in a child.

Down syndrome has no gender preferences: boys and girls are equally often born with an extra chromosome. But besides 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 a 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, a student at the British Higher School of Design, became the winner of the national stage of the international competition for young engineers James Dyson Award 2016. The project of the SvetTex phototherapy nest for newborns presented by Yulia allowed her to win the first stage of the competition. The invention of SvetTex is able to create the most comfortable conditions for the treatment of infants and 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!

I also had heart disease and ischemia in my chart, and there ... something else ... in general terms (motor disorders, developmental delay, and you - it didn’t tell me anything specific, but I’m a specific person).
LLC was, 3mm, a 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 non-abundant sanious discharge, a doctor may prescribe more frequent treatment. 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% glucose solution (it is a precursor of glucuronic acid that binds bilirubin in the liver), 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 are different degrees of FAS: the intellect may be affected, or it may not be affected, or it 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 various ways that it can be established 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, attention is drawn to the Mongoloid incision of the eyes, a skin fold at the inner corners of the eyes, a wide bridge of the nose, deformed auricles, and a flattened nape. 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 is often reduced, which leads to another characteristic feature - a constantly ajar mouth.
Often these signs are so mild that only an experienced doctor or midwife can notice them.
If you suspect that the baby has Down syndrome, it is necessary to conduct chromosomal tests to confirm the diagnosis.