Big eyes and a wide bridge of the nose in a child. Wide nose bridge in a child what does it mean

congenital pathology in the form of congenital malformations may occur in critical periods prenatal development under the influence of factors external environment(physical, chemical, biological, etc.). In this case, there is no damage or changes in the genome.

Risk factors for the birth of children with malformations various genesis may be: the age of the pregnant woman is over 36 years old, 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 just cosmetic defect. Congenital malformations are found in the neonatal period. Small deviations in the structure, which in most cases do not affect normal function organ, are called developmental anomalies or stigmas of disembryogenesis.

Stigmas attract attention in cases where there are more than 7 of them in one child, in this case it is possible to state a dysplastic constitution. There are difficulties in clinical assessment dysplastic constitution, since one or more stigmas may be:

variant of the norm;
a symptom of a disease;
independent syndrome.

List of major dysplastic stigmas.

Neck and torso: short neck, its absence, pterygoid folds; short body, short clavicles, funnel-shaped rib cage, "chicken" chest, short sternum, multiple nipples or widely spaced, asymmetrically located.

Skin and hair: hypertrichosis ( overgrowth hair), coffee stains, birthmarks, discolored skin, low or high hair growth, focal depigmentation.

Head and face: microcephalic skull (small skull size), tower skull, sloping skull, flat occiput, low forehead, narrow forehead, flat facial profile, depressed nose bridge, transverse forehead crease, low eyelids, pronounced brow ridges, wide bridge of the nose, curved nasal septum or wall of the nose, cleft chin, small upper or mandible.

Eyes: microphthalmos, macrophthalmos, oblique incision of the eyes, epicanthus (vertical skin fold at the inner canthus of the eye).

Mouth, tongue and teeth: furrowed lips, pitted teeth, malocclusion, sawtooth teeth, inward growth, palate narrow or short or gothic, vaulted, teeth sparse or stained; bifurcated tip of the tongue, short frenulum, folded tongue, large or small tongue.

Ears: Set high, low or asymmetrical, small or big ears, additional, flat, fleshy auricles, "animal" ears, attached earlobes, absence of earlobes, additional tragus.

Spine: additional ribs, scoliosis, fusion of the vertebrae.

Hand: arachnodactyly (thin and long fingers), clinodactyly (curvature of the fingers), short wide hands, curved terminal phalanges of the fingers, brachydactyly (shortening of the fingers), transverse palmar groove, flat feet.

Abdomen and genitals: asymmetric abdomen, abnormal position of the navel, underdevelopment of the labia and scrotum.

With many malformations, it is difficult to determine the role of heredity and the environment in their occurrence, that is, it is an inherited trait or is associated with the impact of adverse factors on the fetus during pregnancy.

According to WHO, 10% of newborns have chromosomal abnormalities, that is, associated with a chromosome or gene mutation, and in 5% hereditary pathology i.e. inherited.

The defects that can occur both during mutation and be inherited, or arise from the adverse effect of a damaging factor on the fetus, include: congenital dislocation of the hip, clubfoot, horse foot, non-closure of the hard palate and upper lip, anencephaly (complete or almost complete absence brain), birth defects heart, pyloric stenosis, spina bifida (spina bifida), etc.

The birth of a baby with congenital malformations is a difficult event for the family. Shock, guilt, lack of understanding of what to do next are the minimum negative experiences of the parents of such a child. The main task of mom and dad is to obtain maximum information about the disease of the child and provide him best care and treatment.

What should a future mother know about congenital malformations in order to try to avoid an undesirable outcome?

Fetal malformations can be:

genetic (chromosomal), due to heredity. We cannot influence their development (prevent);
formed in the fetus during fetal development (congenital), more dependent on us and our behavior, since we can limit or eliminate damaging external factors.

Chromosomal genetic malformations of the fetus

Genetic information is contained in the nucleus of every human cell in the form of 23 pairs of chromosomes. If an extra chromosome is formed in such a pair of chromosomes, this is called a trisomy.

The most common chromosomal genetic defects with whom doctors meet:

Down syndrome;
Patau syndrome;
Turner syndrome;
Edwards syndrome.

Other chromosomal defects are less common. In all cases chromosomal disorders mental and physical impairment of the child's health can be observed.

Prevent one or the other genetic abnormality impossible, but it is possible to detect chromosomal defects by prenatal diagnosis even before the birth of the child. To do this, a woman consults a geneticist who can calculate all the risks and prescribe prenatal studies to prevent unwanted consequences.

A pregnant woman is shown a consultation with a geneticist in cases where:

she or her partner has already had a baby with some hereditary diseases;
one of the parents has some kind of congenital pathology that can be inherited;
future parents are closely related;
identified high risk chromosomal pathology of the fetus as a result of prenatal screening (result hormonal analysis blood + ultrasound);
the age of the future mother is more than 35 years;
the presence of CFTR gene mutations in future parents;
the woman had missed miscarriages, spontaneous miscarriages or stillborn children of unknown origin in anamnesis (history).

If necessary, the geneticist offers expectant mother pass the additional examinations. Methods for examining a baby before birth, including non-invasive and invasive.

Non-invasive technologies cannot injure the baby, as they do not involve intrusion into the womb. These methods are considered safe and are offered to all pregnant women by an obstetrician-gynecologist. Non-invasive technologies include ultrasound and sampling venous blood future mother.

Invasive (chorionic biopsy, amniocentesis and cordocentesis) are the most accurate, but these methods may be unsafe for the unborn child, as they involve intrusion into the uterine cavity to collect special material for research. Invasive methods offered to the expectant mother only in special occasions and only a geneticist.

Most women prefer to attend genetics and undergo genetic research in case of any serious issues. But every woman is free in her choice. Everything depends on your specific situation, such decisions are always very individual, and no one but you knows the right answer.

Before you undergo such studies, consult with your relatives, obstetrician-gynecologist, psychologist.

Shereshevsky-Turner syndrome (XO). Occurs in girls 2:10000. Short neck, pterygoid folds on the neck, swelling of the distal extremities, congenital heart defects. In the future, sexual infantilism, short stature, primary amenorrhea are manifested.

Down syndrome (trisomy 21 chromosomes). Occurs in boys 1:1000. Wide flat nose bridge, flat nape, low hair growth, protruding big tongue, transverse fold on the palm, heart defects.

Klinefelter syndrome (XXY syndrome): tall patients with disproportionately long limbs, hypogonadism, secondary sexual characteristics are poorly developed, hair growth can be observed female type. Reduced sex drive, impotence, infertility. There is a tendency to alcoholism, homosexuality and antisocial behavior.

hereditary metabolic disorders

To features hereditary disorders metabolism include the gradual onset of the disease, the presence of a latent period, the aggravation of the signs of the disease over time, are detected more often in the process of growth and development of the child, although some may appear from the first days of life.

In the development of some forms of hereditary metabolic diseases, there is a clear connection with the nature of feeding. Chronic eating disorder that began in the neonatal period, as well as during the transition to artificial feeding or the introduction of complementary foods, may mask a deficiency of certain enzyme systems in the small intestine.

Most often in newborns, the metabolism of carbohydrates is disturbed. Most often, this is a deficiency of lactose, sucrose, etc. This group includes: galactose intolerance, glycogen accumulation, glucose intolerance, etc. General symptoms: dyspepsia, convulsions, jaundice, liver enlargement, changes in the heart, muscle hypotension.

Effective treatment started no later than two months of age. Milk is excluded from the diet, transferred to mixtures prepared on soy milk. Earlier complementary foods are introduced: porridge on meat or vegetable broth, vegetables, vegetable oils, eggs. Strict adherence to the diet is recommended up to 3 years.

Amino acid metabolism disorders. Of this group of diseases, phenylketonuria (PKU) is the most common. It is manifested by a change in the central nervous system, dyspeptic phenomena, convulsive syndrome. PKU is characterized by a combination of progressive psychomotor retardation with persistent eczematous skin lesions, a "mouse" smell of urine, and reduced pigmentation of the skin, hair, and iris.

At present, a biochemical defect has been established for 150 hereditary metabolic disorders. Successful Therapy disease is possible in the absence of early diagnosis. In the neonatal period, a mass examination of children is carried out to identify certain diseases, including PKU.

Significantly expanded opportunities early detection hereditary diseases with the introduction of prenatal diagnostic methods into practice. Most fetal diseases are diagnosed by examining amniotic fluid and the cells it contains. Diagnose everyone chromosomal diseases, 80 gene diseases. In addition to amniocentesis, ultrasonography, determination of β-fetoprotein in the blood of pregnant women and in the amniotic fluid, the level of which increases with damage to the central nervous system in the fetus.

Non-hereditary malformations of the fetus

From the moment of fertilization, that is, the fusion of male and female gamete, the formation of a new organism begins.

Embryogenesis lasts from the 3rd week to the 3rd month. Malformations that appear during embryogenesis are called embryopathies. There are critical periods in the formation of the embryo, harmful effects damage those organs and systems that are laid at the time of exposure to the damaging factor. When exposed unfavorable factor on the 1st-2nd week, very gross defects appear, often incompatible with life, which leads to miscarriages. On the 3-4th week, the head, the cardiovascular system are formed, the rudiments of the liver, lungs, thyroid gland, kidneys, adrenal glands, pancreas, the laying of future limbs is planned, therefore, such defects as the absence of eyes arise, hearing aid, liver, kidneys, lung, pancreas, extremities, brain hernias, the formation of additional organs is possible. At the end of the first month, the laying of the genitals occurs, lymphatic system, spleen, formation of the umbilical cord.

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

Embryopathies include:

congenital diaphragmatic hernia,
limb defects (complete absence of all or one limb, rudimentary development of the distal parts of the limbs with normal development proximal parts, the absence of proximal parts of the limbs with the normal development of the distal parts, when the hands or feet start directly from the body),
atresia of the esophagus, intestines, anus,
hernia of the umbilical cord,
atresia of the biliary tract,
lung agenesis (absence of one lung),
congenital heart defects
malformations of the kidneys and urinary tract,
malformations of the central nervous system (anencephaly - the absence of the brain, microcephaly - the underdevelopment of the brain).

Fetopathy. The fetal period lasts from the 4th week prenatal period before the birth of the child. He, in turn, is divided into early - from the 4th month. up to the 7th month, and late - the 8th and 9th months. pregnancy.

When exposed to a damaging factor in the early neonatal period on the fetus, a violation of the differentiation of an already pledged organ occurs. Fetopathies (early) include: hydrocephalus, microcephaly, microphthalmia and other malformations of the central nervous system, pulmonary cystosis, hydronephrosis, hernia of the head and spinal cord- protrusion medulla through sutures and bone defects. Craniocerebral hernias are more often localized at the root of the nose or in the posterior cranial region.

Congenital intrauterine malformations of the fetus can be of a diverse nature, as they can affect almost any organ, any system of a developing baby.

The following environmental hazards are known

Alcohol and drugs - often lead to serious disorders and malformations of the fetus, sometimes incompatible with life.
Nicotine - can cause a lag in the growth and development of a child.
Medications are especially dangerous for early dates pregnancy. They can cause a variety of malformations of the baby. If possible, it is better to refrain from using medications even after the 15-16th week of pregnancy (an exception when it is necessary to maintain the health of the mother and baby).
Infectious diseases transmitted from mother to child are very dangerous for the baby, as they can cause serious violations and developmental defects.
X-ray, radiation - are the cause of many fetal malformations.
Mom's professional hazards (harmful workshops, etc.), which have toxic effects on the fetus - can seriously affect its development.

Congenital pathology of the fetus is detected on various terms pregnancy, so the expectant mother needs to undergo timely examinations by doctors at the recommended time

in the first trimester of pregnancy: 6-8 weeks (ultrasound) and 10-12 weeks (ultrasound + blood test);
in the II trimester of pregnancy: 16-20 weeks (ultrasound + blood test) and 23-25 weeks (ultrasound);
in the III trimester of pregnancy: 30-32 weeks (ultrasound + doppler) and 35-37 weeks (ultrasound + doppler).

Prenatal diagnosis is becoming more and more common these days, because knowledge about the health of the unborn baby and prognosis are very important for future parents. Knowing about the condition of the fetus, the family, having assessed the situation and its capabilities, may refuse to become pregnant.

The concepts of "congenital" and "hereditary" are not identical. Not every "congenital" is "hereditary". Congenital pathology can occur during critical periods of embryogenesis under the influence of environmental teratogenic factors (physical, chemical, biological, etc.) - embryopathy 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 of 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 of the mother, complicated pregnancy (threatened miscarriage, prematurity, postmaturity, breech presentation , little and polyhydramnios).

Deviations in the development of an organ or organ system can be gross with severe functional deficiency or a cosmetic defect. They are detected in the neonatal period (congenital malformations). Small deviations in the structure, which in most cases do not affect the normal function of the organ, are called developmental anomalies, or dysembryogenesis stigmas.

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 developmental features creates difficulties in their clinical assessment, since one or more stigmas may turn out to 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 collarbones, funnel chest, "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 facial profile, depressed bridge of the nose, transverse forehead crease, low standing eyelids, pronounced superciliary arches, broad bridge of the nose, deviated nasal septum or bridge of the nose, bifurcated chin, microstomia, micrognathia, prognathism, sloping chin, wedge-shaped 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 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), chromosomal abnormalities are found in 1% of newborns; 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 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 dysplasia (microcephaly, arynencephaly, agenesis of bone beams; non-closure of the lip, lower jaw and palate; 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 bridge of the nose, flat nape, low hair growth, protruding tongue, one- or two-sided transverse furrow 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.

In contact with

Classmates

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:

by 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 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's 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: 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: 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 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

Passing through the birth canal, the entire body of the child is very strongly compressed, as a result of which the head of the newborn may have asymmetry, and the face may be puffy.

Head of a newborn baby

The head of a newborn is relatively large; immediately after birth, almost every child can notice some deformation of the head, less often - asymmetry is obvious. As a rule, any such changes are temporary and should not scare young parents.

The main cause of deformation, as already mentioned, is the process of passing a little man through the birth canal. The fact is that the bones of the child's skull during the passage of this difficult journey are forced to move slightly relative to each other. For this reason, experts have identified a certain pattern: the larger the baby's head, the more deformation it will be subject to. As a rule, a large head is characteristic of a large fetus.

Babies who were born with the help do not have a noticeable deformation of the head.

If you carefully and carefully feel the head of a newborn child, you can easily find the so-called fontanelles. They are a soft area of skin between the bones of the skull, with light pressure on such areas with a finger, you can feel some pulsation. The largest fontanel is located just above the top of the head, the second is slightly lower from the large one. As the baby grows, his fontanels tighten; as a rule, by the year they disappear altogether.

Newborn face

In the first hours after childbirth, the face of the newborn still retains traces of strong compression: the nose is flattened, the eyelids are slightly swollen, the skin is swollen, with a reddish tinge. In the folds on the face (in the area of the nose), behind the ears there are small accumulations of a special secret in the form of white / yellowish dots, thanks to this lubricating secret, it was easier for the child to pass through the birth canal. It is not worth removing such accumulations on your own, over time they will pass by themselves.

Separately, it is worth talking about the nose of a newborn. Immediately after birth, this olfactory organ will be slightly flattened and, as it may seem, very large. This state, again, is explained by the journey that the baby had to go through. After a couple of days, the baby's nose will become neat.

In the very first minutes after birth, the entire nasal cavity of a newborn is filled with amniotic fluid, which doctors remove on their own using a special suction. The cartilage of the nose of the baby is very soft. The nasal passages are relatively narrow, they have a large number of blood vessels, so if the vessels expand (i.e., the mucous membrane swells), then the baby’s breathing becomes much more difficult. If breathing is difficult, then the baby will often interrupt during feeding to inhale air through the mouth. inevitable.

Experts say that a newborn is able to distinguish smells almost immediately after birth. They can even boast of a good sense of smell. In this regard, a young mother should remember: it is better to leave experiments with toilet waters / deodorants for later if she wants to breastfeed her baby for a long time.

If the baby is large, then, most likely, some deformation of the face will be visually noticeable: during childbirth, not only the bones of the skull, but also the bones on the baby's face were displaced. Such a face will not seem pretty to a young mother, but by the time she is discharged, the baby’s skin will have time to smooth out and he will appear in front of his dad (and other relatives) in his very glory.

Attention!
Use of site materials www.site" is possible only with the written permission of the Site Administration. Otherwise, any reprint of site materials (even with a link to the original) is a violation of the Federal Law of the Russian Federation "On Copyright and Related Rights" and entails legal proceedings in accordance with the Civil and Criminal Codes Russian Federation.