The child has large eyes and a wide bridge of the nose. What does a child have a wide bridge of the nose?

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

Risk factors for having children with developmental defects of various origins may be: the age of the pregnant woman over 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 just cosmetic defect. Congenital malformations are detected in the newborn period. Minor 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 which case a dysplastic constitution can be stated. 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 main dysplastic stigmas.

Neck and torso: short neck, lack of it, wing-shaped folds; short body, short collarbones, funnel-shaped rib cage, “chicken” chest, short sternum, multiple nipples or widely spaced, asymmetrically located.

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

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

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

Mouth, tongue and teeth: grooved lips, sockets in teeth, malocclusions, sawtooth teeth, inward growing teeth, narrow or short palate or gothic, arched, sparse or stained teeth; forked tip of the tongue, shortened frenulum, folded tongue, large or small tongue.

Ears: high, low or asymmetrical, small or big ears, additional, flat, fleshy ears, “animal” ears, attached lobes, absence of lobes, additional tragus.

Spine: extra ribs, scoliosis, vertebral fusion.

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

Abdomen and genitals: asymmetrical abdomen, incorrect location of the navel, underdevelopment of the labia and scrotum.

With many developmental defects, it is difficult to determine the role of heredity and 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 are diagnosed with chromosomal abnormalities, that is, associated with a mutation of a chromosome or gene, and in 5% hereditary pathology, that is, inherited.

Defects that can arise either as a result of mutation, or be inherited, or occur due to the adverse effect of a damaging factor on the fetus, include: congenital dislocation of the hip, clubfoot, cauda equina, cleft palate and upper lip, anencephaly (complete or almost complete absence brain), birth defects heart disease, 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 minimal negative experiences of the parents of such a child. The main task of mom and dad is to obtain maximum information about the child’s illness and provide him with best care and treatment.

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

Fetal malformations may be:

genetic (chromosomal), due to heredity. We cannot influence (prevent) their development;
formed in the fetus during intrauterine development (congenital), largely 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 extra chromosome is formed in such a pair of chromosomes, this is called trisomy.

The most common chromosomal genetic defects with whom doctors meet:

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

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

Prevent the occurrence of one or another genetic disorder is impossible, but it is possible to detect chromosomal defects through prenatal diagnosis even before the birth of the child. To do this, a woman consults with a geneticist, who can calculate all the risks and prescribe prenatal tests to prevent undesirable consequences.

A pregnant woman is advised to consult a geneticist if:

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 expectant mother is more than 35 years;
the presence of CFTR gene mutations in future parents;
the woman had missed abortions, spontaneous miscarriages or stillborn children unknown origin in the anamnesis (history).

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

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

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

Shereshevsky-Turner syndrome (TS). Occurs in girls 2:10000. Short neck, pterygoid folds on the neck, edema of the distal extremities, congenital heart defects. Subsequently, sexual infantilism, short stature, and primary amenorrhea appear.

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

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

Hereditary metabolic disorders

To the features hereditary disorders metabolic diseases include a gradual onset of the disease, the presence of a latent period, worsening signs of the disease over time, and are detected more often during the 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 begins 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, carbohydrate metabolism is disrupted in newborns. 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.

Treatment is effective if started no later than two months of age. Milk is excluded from the diet and switched to mixtures prepared in soy milk. Previously, complementary foods were introduced: porridge with meat or vegetable broth, vegetables, vegetable oils, eggs. Strict adherence to the diet is recommended up to 3 years of age.

Amino acid metabolism disorders. Of this group of diseases, phenylketonuria (PKU) is the most common. Manifested by changes in the central nervous system, dyspeptic symptoms, convulsive syndrome. PKU is characterized by a combination of progressive psychomotor retardation with persistent eczematous skin lesions, a “mouse” odor of urine, and decreased pigmentation of the skin, hair, and iris.

Currently, a biochemical defect has been identified for 150 hereditary metabolic disorders. Successful therapy disease is possible in the absence of it early diagnosis. During the neonatal period, mass examinations of children are carried out to identify certain diseases, including PKU.

Opportunities have expanded significantly 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. Everyone is diagnosed chromosomal diseases, 80 gene diseases. In addition to amniocentesis, they use ultrasonography, determination of β-fetoprotein in the blood of pregnant women and in amniotic fluid, the level of which increases with damage to the central nervous system in the fetus.

Non-hereditary fetal malformations

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

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

In the second month, abnormalities such as cleft lip and palate, hearing aid abnormalities, cervical fistulas and cysts, chest and chest defects may occur. abdominal wall, defects of the diaphragm, heart septum, 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, absence of proximal parts of the limbs with normal development of the distal parts, when the hands or feet start directly from the body),
atresia of the esophagus, intestines, anus,
umbilical cord hernia,
biliary atresia,
pulmonary agenesis (absence of one lung),
congenital heart defects,
malformations of the kidneys and urinary tract,
malformations of the central nervous system (anencephaly - absence of the brain, microcephaly - underdevelopment of the brain).

Fetopathies. The fetal period lasts from the 4th week prenatal period before the baby is born. It, in turn, is divided into early - from the 4th month. up to 7 months, and late - 8 and 9 months. pregnancy.

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

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

The following dangerous external factors are known:

Alcohol and drugs often lead to serious disorders and malformations of the fetus, sometimes incompatible with life.
Nicotine can cause delays in the growth and development of a child.
Medications are especially dangerous for early stages pregnancy. They can cause a variety of developmental defects in the baby. If possible, it is better to refrain from using medications even after the 15th-16th week of pregnancy (exception when this is necessary to preserve 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-rays and radiation are the cause of many fetal malformations.
Occupational hazards of the mother (harmful workshops, etc.), having toxic effects on the fetus - can seriously affect its development.

Congenital fetal pathology is detected by different terms pregnancy, therefore the expectant mother needs to undergo timely examinations by doctors within the recommended time frame

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

Prenatal diagnostics are becoming increasingly widespread these days, because knowledge about the health of the unborn baby and prognoses are very important for future parents. Knowing about the condition of the fetus, the family, having assessed the situation and their capabilities, can refuse pregnancy.

The concepts “congenital” and “hereditary” are not identical. Not everything “innate” is “hereditary”. Congenital pathology can occur during critical periods of 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 the birth of children with developmental defects of various origins are considered to be: the age of the pregnant woman over 36 years, previous births of children with developmental defects, spontaneous abortions, consanguineous marriage, somatic and gynecological diseases of the 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 severe functional deficiency or cosmetic defect. They are detected during the newborn 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 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 conventional 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 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, wing-shaped 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 face profile, depressed bridge of the nose, transverse fold on the forehead, low standing eyelids, pronounced brow ridges, wide bridge of the nose, deviated nasal septum or bridge of the nose, cleft 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 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 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, arinencephaly, agenesis of bone beams; cleft lip, mandible and palate; 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 nape, 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.

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

Passing through the birth canal, the baby’s entire body is greatly compressed, as a result of which the newborn’s head may have asymmetry and the face may be swollen.

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 they should not frighten young parents.

The main cause of deformation, as already mentioned, is the process of the little man passing through the birth canal. The fact is that the bones of the child’s skull are forced to shift slightly relative to each other during this difficult journey. 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 fruit.

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 baby, you can easily detect the so-called fontanelles. They are a soft area of skin between the bones of the skull; when you press lightly with your finger on such areas, 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 fontanelles tighten; As a rule, by the age of one year they completely disappear.

Newborn baby's face

In the first hours after birth, the newborn’s face still retains traces of strong compression: the nose is flattened, the eyelids are slightly swollen, the skin is swollen, with a reddish tint. In the folds on the face (in the nose area), behind the ears there are small accumulations of a special secretion in the form of white/yellowish dots, thanks to this lubricating secretion it was easier for the child to pass through the birth canal. You shouldn’t remove such accumulations yourself; they will go away on their own over time.

We should also talk about the nose of a newborn. Immediately after birth, this olfactory organ will be slightly flattened and may appear to be very large. This condition, again, is explained by the journey that the baby had to go through. In a couple of days, the baby’s nose will become neat.

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

Experts say that a newborn is able to distinguish smells almost immediately after birth. Even they can boast of a good sense of smell. In this regard, a young mother should remember: experiments with eau de toilettes/deodorants are best left 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 the birth process, not only the bones of the skull, but also the bones on the child’s face shifted. A young mother will not find such a face attractive, but by the time she is discharged, the baby’s skin will have time to smooth out and he will appear before his dad (and other relatives) in his very beauty.

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