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

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

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

Deviations in the development of an organ or organ system can be severe with pronounced functional impairment or cosmetic defect. They are detected during the neonatal period ( birth defects development). Minor deviations in the structure, which in most cases do not affect normal function organs are called developmental anomalies, or stigmas of disembryogenesis.

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

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

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

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

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

List of dysplastic stigmas

Neck and torso: short, absent, wing-shaped folds; short, long, short clavicles, 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 skin; hair growth is low, hair growth is high, focal depigmentation.

Head and face: macrocephalic skull, dolichocephalic, tower, oxycephaly, scaphocephaly, cebocephaly, flat occiput; low forehead, narrow forehead, flat face profile, depressed bridge of the nose, transverse fold on the forehead, low eyelids, pronounced brow ridges, wide bridge of the nose, twisted nasal septum or nasal bridge, 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 grooves, sockets on teeth, malocclusions, supernumerary teeth, sawtooth teeth, awl-shaped incisors, inward growth of teeth, groove on alveolar process, short palate, narrow palate, gothic palate, vaulted palate, sparse teeth, stained teeth, tongue protrusion, forked tip, shortened frenulum, folded tongue, macroglossia, microglossia.

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

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

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

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

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

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

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

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

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

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

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

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

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

The most common chromosomal aberration syndromes are:

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

The following trisomy syndromes are known:

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

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

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

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

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

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

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

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

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

In severe cases, signs of the disease appear in the first days and weeks of life. The newborn is reluctant to accept milk. Anorexia, vomiting, bloating, dyspepsia, lethargy (hypoglycemic manifestations) and persistent jaundice are characteristic. At first, jaundice resembles physiological jaundice, but after the 5-6th day, instead of decreasing, it intensifies with an increase in the content of predominantly free bilirubin. The liver enlarges, and signs of cirrhosis appear (thick consistency, ascites, splenomegaly, etc.). The child is not gaining weight and height well. Typical neurological symptoms are lethargy, adynamia or agitation, anxiety, and convulsive syndrome. Brain swelling occurs. Sometimes symptoms of bleeding are added, since liver damage leads to hypoproteinemia and hypoprothrombinemia. In 25% of patients, hemolytic jaundice can be noted, since damaged red blood cells bind 25-30% less oxygen, have a shortened life expectancy and are hemolyzed. Proteinuria (globulinuria of tubular origin), aminoaciduria, and mellituria are noted in the urine. Cataracts can be congenital or appear in the 3rd week. In galactosemia, galactose is transformed into galactitol (dulcitol) under the influence of aldolase reductase. Galactitol is not metabolized and plays a pathogenetic role in the appearance of cataracts. Signs of the disease can progress and lead to coma and death over several weeks. More often the course of the disease is longer. Characterized by a lag in psychomotor development.

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

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

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

Enzymopathies of amino acid metabolism represent a large group of practical importance. Disturbances in the metabolism of amino acids are called either aminoacidemia or aminoaciduria, which are divided into excess, non-threshold and transport. With excess aminoaciduria as a result of an innate metabolic block, the amino acid, accumulating in the blood to a certain limit, is excreted in the urine. These include classic phenylketonuria (PKU), tyrosinosis, alkaptonuria, histidinemia, valinemia, leucinosis (“maple syrup urine disease”), hereditary defects in the urea synthesis cycle, etc.

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

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

Disturbances in tryptophan metabolism (B6-dependent conditions) are characterized by persistent eczematous dermatosis, anemia, and allergic conditions.

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

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

In newborns, especially premature ones, in the first days and weeks of life, functional immaturity of many organs and systems is noted; embryopathies that have similar features to hereditary enzymopathies are also common. Often the disease is diagnosed as “birth trauma, posthypoxic encephalopathy.” Ineffectiveness of therapy, deterioration of the condition every month, the presence of specific symptoms (unusual smell of urine) serve as the basis for examination for hereditary enzymopathy. A large number of phenocopies requires diagnosis at the biochemical level.

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

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

What is the norm?

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

Converging. In this case, one or two eyes slant towards the bridge of the nose. In infants this is exactly the type observed (in 90% of cases).
Divergent. One or both eyes move towards the temple.

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

At birth, he does not always have access to control over the movement of his eyeballs. It is important for parents to know when this phenomenon occurs, since such a process cannot be started.

Only 9% of seven-year-old children of the total number of children with strabismus persist. Over time, the eye muscles become stronger, and there is no longer any reminder that the baby had strabismus.

The structural features of the skull bones 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 may be:

birth complications;
lack of oxygen during intrauterine development;
infection and intoxication of the fetus;
previous 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, it leads to impaired visual acuity and the development of amblyopia.

When to go to the doctor?

Despite the fact that strabismus can go away a month after birth, or three, but normally this phenomenon should not be observed in a six-month-old baby.

It is at this age that strabismus is considered a pathological condition and is a reason to consult a doctor.

The following types of disease are distinguished:

by time of appearance - congenital or acquired;
permanent and temporary;
one-sided or alternating;
convergent, divergent and vertical.

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

How to prevent the disease?

To prevent strobism from causing vision loss, there is prevention of strabismus in infants.

If a baby has strabismus at the age of one month, then you need to do the following:

Hang bright toys above the center of the crib at such a distance that the baby would not be able to reach them with his hand.
Toys should only be large sizes.
Do gymnastics to strengthen the eye muscles. For this purpose, you need to take a large and bright rattle and move 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 treat it. In each case, only an individual approach is applied.

Such a disease should not be neglected, as vision may gradually decrease sharply.

Once diagnosed, treatment is as follows:

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

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

If there is no effectiveness, the doctor may recommend surgery. It is performed under general anesthesia. After this, 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 reason to panic; for the first few months of his life he cannot focus his gaze.

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

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. The folds of skin that run from the upper eyelid to the bridge of the nose are called epicanthus, and if they are too wide, it can look a lot like squinting. 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 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 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 make your weak eye work by covering your good eye with a bandage. 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 of the weak muscle so that the squint eye keeps up with the healthy eye 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 the presence of this pathology cannot be diagnosed solely by the appearance of the baby. However, the external signs of Down syndrome are so characteristic that an experienced midwife can immediately discern them in a baby who has just been born.

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 of common symptoms in the same patients was noticed in 1866 by John Down, after whom this syndrome was named. With Down syndrome, even at the stage of intrauterine anlage 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 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;
the earlobes are small, the auricles are deformed, the 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 imperfections in 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 observed in approximately half of all Downies 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 smaller than normal size of the oral cavity and reduced 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 of the 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 fontanel 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 a physiological norm, which is simply a feature of a newborn baby and has nothing to do with 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 in a child.

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 thing: 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 a 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, 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. Yulia’s design of a nest for phototherapy of newborns, SvetTex, allowed her to win the first stage of the competition. The SvetTex invention can create the most comfortable treatment conditions for infants and protect the eyes of young patients from blinding light 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 defects and ischemia were also in my chart, and there’s... one more thing... in general terms (motor disorders, developmental delay, and you name it - 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. If the umbilical wound is wide and there is possible light urinary discharge, the 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. For the treatment of 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), 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 are different degrees of 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

DM is usually so clearly visible based on various signs that it can be diagnosed 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 at the inner corners of the eyes, the wide bridge of the nose, deformed ears, and the 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 - a constantly slightly open mouth.
Often these signs are so subtle that only an experienced doctor or midwife can notice them.
If you suspect that your baby has Down syndrome, it is necessary to conduct chromosomal tests to confirm the diagnosis.