Wide bridge of the nose in a child syndrome. Congenital and hereditary diseases of newborns

Stigmas are very small developmental defects that appear as a result of adverse effects harmful factors for the fruit. There are a lot of them, but you need to know about the most common ones. If there are more than 6-7 of them, then this indicates the inferiority of the genetic material, that some health deviations should be expected from the child, and also that parents with such a child should contact a geneticist.

The most common stigmas

In the area of the skull: special shape skulls, including asymmetrical; low forehead, pronounced brow ridges, overhanging occipital bone, flattened occiput.

In the facial area: sloping forehead, Mongoloid and anti-Mongoloid eye shape, hypo- and hypertelorism, saddle nose, flattened dorsum of the nose, facial asymmetry. Unusual shape jaws, underdeveloped chin, cleft chin, wedge-shaped chin.

In the eye area: epicanthus, low eyelids, asymmetry of the palpebral fissures, double growth of eyelashes, different color iris, irregular shape pupils.

In the ear area: large protruding ears, small deformed ears, ears of different sizes and shapes, low position ears, different level location of the ears, anomaly in the development of the shape of the helix and antihelix, attached earlobes, additional tragus.

In the mouth area: large or small mouth (microstomia, macrostomia), “carp mouth”, high and narrow palate, high flattened palate, arched palate, short bridle tongue, forked tongue.

In the neck area: short or long neck, torticollis, pterygoid folds.

In the torso area: the torso is long or short, the chest is depressed or keeled, barrel-shaped, asymmetrical, large distance between the nipples, accessory nipples, agenesis of the xiphoid process, divergence of the rectus abdominis muscles, low navel, hernia.

In the area of the hands: short and thick fingers, long and thin (spider) fingers, syndactyly, transverse groove of the palm, short curved V finger, curvature of all fingers.

In the area of the feet: brachydactyly, arachnodactyly, syndactyly, sandal cleft, bident, trident, cavus foot, overlapping of toes.

In the skin area: depigmented and hyperpigmented spots, large birthmarks with hair growth, excessive local hair growth, hemangiomas, areas of aplasia of the scalp.

Waardenburg syndrome

Telekanth, wide bridge of the nose, heterochromia of the irises

Syndactyly

Fused fingers

Prognathism

Hypoplasia lower jaw

Syndactyly

Fused fingers

Aarskog syndrome

Hypertelorism, broad bridge of the nose, rounded face, high forehead, anti-Mongoloid eye shape

Acrocephaly, anti-Mongoloid eye shape, depressed bridge of the nose, prognathism

Children with abnormalities in the skull and face often suffer from headaches, which are especially intensified during the period of intensive growth of the child.

Detected stigmas in the facial area of a newborn can warn parents and doctors about possible violation neuropsychic development child, pathological manifestations highest nervous activity child in the future.

Such a child should definitely be dealt with from birth, and developmental methods should be used in his upbringing at each age stage.

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

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

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

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

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

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

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

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

List of dysplastic stigmas

Neck and torso: short, absent, wing-shaped folds; short, long, short clavicles, funnel-shaped rib cage, “chicken” chest, short sternum, multiple nipples, asymmetrically located nipples.

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

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

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

Mouth, tongue and teeth: lips with grooves, sockets on teeth, malocclusions, supernumerary teeth, sawtooth teeth, awl-shaped incisors, inward growth of teeth, groove on alveolar process, short palate, narrow palate, gothic palate, vaulted palate, sparse teeth, stained teeth, tongue protrusion, forked tip, short 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 the structures of heredity can occur at the chromosomal and gene levels.

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

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

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

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

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

The most common chromosomal aberration syndromes are:

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

The following trisomy syndromes are known:

1) 13-15 (Patau syndrome) - craniocephalic dysplasia (microcephaly, 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 back of the head, low hair growth, protruding tongue, one- or two-sided transverse groove of the palm, heart defects. Life expectancy depends on the addition of intercurrent diseases.

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

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

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

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

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

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

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

In mild forms of the disease, symptoms from the gastrointestinal tract are less pronounced, but there are always cataracts and hepatosplenomegaly. The differential diagnostic range for galactosemia includes all types of intrauterine infections accompanied by jaundice and eye damage (toxoplasmosis, listeriosis, rubella, syphilis); congenital hepatitis; various types of jaundice of other origin (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 exposure to 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, seizures 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 odor 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.

Today, Down syndrome is the most common genetic disorder. The foundation of this disease is laid at the moment of formation of the egg or sperm. A child who has such a problem has a slightly different chromosome set. He's anomalous. If a normal baby has 46 chromosomes, then a down child has 47.

Risk factor

The causes of the disease are not yet fully understood. However, doctors from all over the world came to a unanimous decision. They argue: the older the woman who gives birth, the higher the risk of giving birth to a child with this disease. In this case, the gender of the baby, the age of the father and the living environment do not matter.

Best for a woman - after thirty-five years. The likelihood of having a baby with the wrong set of chromosomes increases several times. This is especially true for families who already have such a “sunny baby”. in a newborn child they appear in the womb. At the twelfth week of pregnancy, an ultrasound may show pathology. But this is not a guarantee that the baby will be born unhealthy. The exact result can only be known after childbirth. But this is not enough. To confirm the diagnosis or exclude it, special examinations need to be carried out. External signs of Down syndrome in newborns do not always confirm the deviation.

signs in newborns

The term “syndrome” in medicine means a set of symptoms that appear in a certain human condition. In 1866, scientist and physician John Down grouped a complex of symptoms in a certain group of people with this disease. The syndrome is named after this man.

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

The face is slightly flattened and flat. The back of the head has the same shape.
A skin fold can be seen on the neck.
There is decreased muscle tone.
The baby has an oblique cut, and their corners are raised. A “Mongolian fold” or the so-called third eyelid is formed.
The child's limbs are short when compared with other children.
His joints are very mobile.
The fingers are the same length, so the palm appears wide and flat.
The child is small. Most often, excess weight appears with age.

These features characterize Down syndrome. Almost all signs are associated with deformation of the skull and facial features, as well as with disorders of bone and muscle tissue. However, there are other signs. They don't happen that often.

Less common signs

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

Small mouth and arched narrow palate.
Weak tone of the tongue: it constantly protrudes from the mouth. Over time, wrinkles may form on it.
A small chin, as well as a short nose and a wide bridge of the nose.
Short neck.
A horizontal crease may form on the palms.
The big toe is located at a great distance from the others. And on the foot underneath there is a fold.

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

What is not noticeable at first glance

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

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

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

Diagnostics

There are several methods to identify this anomaly:

Using ultrasound, the size of the “collar” of the fetus is determined. If subcutaneous fluid appears in this area between the eleventh and thirteenth weeks of pregnancy, then there is a risk of a chromosomal abnormality. However, the technique does not always show correct results.
Combined method. Its essence lies in the fact that an ultrasound examination is performed and at the same time a special blood test is taken.
Study of amniotic fluid. Women who have been found to be at high risk of having a child with Down syndrome through this procedure should continue further testing to determine the exact result.

Types of deviation

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

Mosaic syndrome occurs when not all cells of the body are present. This anomaly occurs in five percent of patients. Another type of syndrome is duplication of part of the twenty-first chromosome. The pathology is rare. This deviation is characterized by the division of some chromosomes.

Signs in the fetus

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

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

Newborns with Down syndrome: signs in a child

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

Retarded mental and physical development.
Visual and hearing impairments that can appear completely unexpectedly.
Delays in the development of fine motor skills.
Excessive mobility of bones, joints and muscles.
Very low immunity.
Problems with the lungs, liver and digestive system.
heart and blood diseases, including leukemia.

The right decision

Thanks to modern technologies, a woman learns about the presence of chromosomal pathologies in the fetus. At an early stage, the mother can terminate the pregnancy, thereby depriving the unborn baby of life. Down syndrome is not a fatal disease. But the child’s mother can determine his and her fate in advance. Today, this chromosomal abnormality is a fairly common occurrence. You may meet a person and not even believe that he has Down syndrome. Of course, raising such a child is a little more difficult. His life will be different from the life of other children. But no one says that he will be unhappy. Only his mother has the right to decide his future fate.

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

Children with Down syndrome are quite learnable, although they have developmental delays. To do this you need to use special programs.
Such children develop much faster if they are in a group with ordinary peers. It is better if they are raised in families rather than in specialized boarding schools.
After school, patients with an abnormality of the twenty-first chromosome may well receive higher education. Don't focus too much on your child's illness.
"Children of the Sun" are very kind and friendly. They are able to sincerely love and create families. However, they have a very high risk of having a child with Down syndrome.
Thanks to new medical inventions, such people can extend their lives to fifty years.
You should not take the blame for the birth of a “sunny child”. Even completely healthy women can give birth to such a baby.
If your family has a child with this anomaly, then the risk of having the same baby is approximately one percent.

Down syndrome (signs in newborns were indicated in this article) allows children to grow, develop and enjoy life. Our task is to provide them with support, attention and love.

The pathology in question is not tied to any particular race or gender. It can occur as an isolated defect or be combined with other developmental defects.

The doctor often detects abnormalities during the first examination, and to eliminate them, only surgical intervention is required.

Causes of congenital deformities and defects of the nose – who is at risk?

Errors in the formation of the external nose arise due to the negative influence of the environment, bad habits, and some other factors on the health of the expectant mother, who is 6-12 weeks pregnant.

External defects of the nose are not only an aesthetic problem - they can provoke serious developmental problems in the future.

There are several factors, the impact of which on a pregnant woman can cause congenital anomalies of the nose in a child:

Infection of the body with diseases from the TORCH group. Because of this, in the Russian Federation in the first trimester of pregnancy, women are tested for rubella, toxoplasmosis, cytomegalovirus, hepatitis virus, herpes, and syphilis.
Radioactive or ionizing radiation.
Poisoning by chemical agents.
Taking certain medications.
Alcoholism.
Tobacco smoking.
Genetic predisposition.
Taking drugs.

Types of congenital anomalies of the nose in medical classification

Today, in medical sources, the disease in question is classified as follows:

1. Dysmorphogenesis

A condition in which the bony and cartilaginous skeleton of the nose is modified.

There are several types:

Hypogenesis . It is characterized by underdevelopment and shortening of the external structures of the nose: the back, base, wings. Deformations can affect all or one structure, and be one- or two-sided. In rare cases, there may be a complete absence of the above components of the nose. This condition is called in some sources agenesis.
Hypergenesis . The cartilaginous or bone tissues here are quite large. This group of deformities includes a wide, too long nose, as well as an extensive tip of the nose.
Dysgenesis . Developmental defects are concentrated in the frontal plane. The curvature of the nose can have different shapes (skewness, S-shaped deformation, lateral proboscis, hump on the nose, etc.).

2. Persistence

Pathological conditions in which the newborn has “unnecessary” components of the external nose.

This group of anomalies is divided into two types:

Defects of the external part of the nose : solitary neoplasms at the base of the nose, which contain fatty glands and hair; lateral/median cleft nose; forked tip of the nose.
Intranasal anomalies : separation - or complete separation - of the turbinates from each other; atresia of the nasal passages.

3. Dystopia

With these defects, the external nose has a variety of neoplasms that can be located in different places.

For example, the nasal septum may be equipped with an appendage, which will negatively affect nasal breathing and the function of the sense of smell.

Another example is the presence of a vesicle on the nasal concha with glandular secretion inside. In the future, purulent infiltrate may accumulate in such blisters, which will lead to inflammation of the nasal mucosa.

Symptoms of congenital anomalies of the nose - diagnosis of nasal defects in newborns

One of the most striking manifestations of the disease in question is the non-standard shape of the nose, as well as deformations of the facial part of the skull.

Typical for all types of anomalies is a violation of free breathing through the nose.

This phenomenon is characterized by the following conditions:

Too noisy, rapid breathing.
Blueness of the nasolabial triangle.
Discomfort when swallowing.
Choking and respiratory failure can develop in particularly difficult cases.
The passage of food out through the nasal passages during feeding.
The newborn is constantly restless and sleeps poorly.

Dystopia, unlike other congenital nasal defects, manifests itself more clearly. The patient experiences a constant accumulation of thick mucus in the nasal passages, as a result of which dermatitis can form near the nose and upper lip.

The presence of cysts and fistulas can cause regular inflammatory processes, which in the future can develop into frontal sinusitis or meningitis.

This anomaly is diagnosed by a pediatrician or neonatologist through the following measures:

Questioning the mother about diseases suffered during pregnancy, determining the moment of genetic predisposition. The presence of harmful factors that can affect the development of the fetus plays an important role.
Examination of a newborn to identify deformations of the facial skull. In case of serious nasal defects, these modifications will be visible.
Laboratory tests are needed to confirm/exclude TORCH infections in the child’s blood. Using the same technique, inflammatory exacerbations are checked.
Rhinoscopy, using a special mini-mirror, is intended to examine the condition of the internal structures of the nose.
Probing helps to study the degree of patency of the nasal passages. For this manipulation, a rubber or metal catheter is used.
Fiberendoscopy. It makes it possible to examine in detail the mucous membrane of the nose and nasopharynx, intranasal structures, identify the smallest neoplasms, and also record all this on the monitor using a video camera.
Radiography. Allows you to examine pathological changes in the nose that cannot be identified with a superficial diagnosis. In some cases, a contrast agent may be additionally used.
. Makes it possible to get a complete picture of the existing changes inside the nasal cavity. This technique is used to study the quality of patency of the nasal passages.
MRI. Prescribed in exceptional cases when there are suspicions of disturbances in the functioning of the brain.

Treatment of congenital anomalies of the nose - indications and contraindications for surgery

The pathology in question is treated exclusively by surgery.

If there is complete absence of patency of the nasal cavity, the infection is pierced, and a catheter is inserted into the formed hole.

During surgical manipulation in infants, the choice is made in favor of transnasal access.

The mucous membrane is excised with a scalpel and peeled off to the site of the intended localization of atresia.
This defect is eliminated using a medical chisel, and a thermoplastic tube is inserted into the formed lumen to provide drainage.

For severe defects of the external nose Rhinoplasty is performed as early as possible. This helps prevent deformation of the facial skull and does not affect the development of the alveolar process of the upper jaw.

In parallel with this, can be carried out microsurgical manipulations on intranasal structures which help preserve the sense of smell.

For less pronounced deformations plastic surgery may be postponed, but the decision is always made by the doctor.

Fistulas must be examined before excision through fistulography. Cystic neoplasms in the nasal cavity are also eliminated regardless of the child’s age. If the congenital fistula is located close to the anterior cranial fossa, a neurosurgeon should also be present at the operation.

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

First of all, he needs to learn to coordinate the movement of his eyes. True, this does not work for children immediately after birth. Most newborns cope within six weeks. Even if one eye continues to disobey, parents may not worry about this for up to three months.

Sometimes parents sound the alarm, suspecting their child has strabismus. This is especially noticeable when, when looking straight ahead, the baby’s eyes converge towards the bridge of his nose. The parents may be right, but perhaps this is due to the fact that the child's nose bridge is too wide. The folds of skin that run from the upper eyelid to the bridge of the nose are called epicanthus, and if they are too wide, it can look a lot like squinting. However, if these folds are turned inward towards the nose, the illusion of squint disappears and it becomes clear that the eyes move synchronously in the same direction.

With true strabismus, one eye moves independently and attracts attention when the child looks sharply to the side. Strabismus is usually inherited. Therefore, if one of the relatives has strabismus, the child should be under special supervision. Strabismus is usually caused by weakness in one of the six eye muscles that move the eyeball. Although myopia or farsightedness can also provoke this deviation. You can determine strabismus by observing the reflection in the eyes of a bright, distant object, such as a window. With strabismus, this object will be reflected in only one eye.

In addition to the fact that strabismus does not decorate the face, it affects the child’s vision. The work of the brain is concentrated mainly on the healthy eye, and the oblique eye seems to remain unattended. If this eye is left untreated, the child may develop amblyopia, or blindness in one eye. Therefore, it is extremely important, upon discovering strabismus, to immediately begin its examination and treatment.

The type of strabismus described above is the most common. And it appears and then disappears. Sometimes both eyes move and look synchronously and in parallel, but sometimes one eye begins to deviate. Much less common is fixed strabismus, when the squinting eye constantly moves independently, separately from the healthy eye. In this condition, the most serious measures are necessary, since fixed strabismus often indicates a disease of the ocular media or the central nervous system.

What can you do?

First of all, if you notice strabismus in a child, pay attention to the width of the bridge of the nose. This may not be true strabismus. In any case, before your child starts school, have his eyes checked by a doctor every year. If the doctor confirms strabismus, the child should be referred to a specialist.

What can a doctor do?

The most common cause of strabismus is weakness of one of the muscles that moves the eyeball. You can make your weak eye work by covering your good eye with a bandage. Like all other muscles, the weak eye is strengthened by this training, and within a few weeks or months the weak eye begins to move normally.

In the most severe cases, surgery can be done to change the length of the weak muscle so that the squint eye keeps up with the healthy eye and works normally. Strabismus surgery is usually performed at age six or seven to prevent possible blindness in the affected eye. In cases of nearsightedness or farsightedness, glasses help to correct this lack of vision, which sometimes leads to strabismus.

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

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

Source: www.bhealth.ru

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 nashidetki.net - Margarita SOLOVIOVA

Source: nashidetki.net

Width of the upper third of the nose

Excessive width of the bridge of the nose is caused by nasal bones that are too wide apart. They successfully distract attention from the eyes, creating a unique appearance for the owner of a non-standard nose. After rhinoplasty of the bridge of the nose, the emphasis automatically falls on the eyes.

Since a wide bridge of the nose is mainly due to a congenital defect, many people develop complexes due to this problem literally for life. But there are cases when the width of the bridge of the nose increases visually due to an injury or previous surgery, which is especially scary for some people, since this factor once again reminds them of what happened to them. The only solution to this problem is rhinoplasty.

A wide bridge of the nose visually not only makes the nose large and flattened. It also changes the expressiveness and attractiveness of the look. The overall impression of the face and how it looks when reflecting different emotions also changes.

How to eliminate a wide bridge of the nose?

The wide bridge of the nose is visible especially clearly from the frontal view. This problem appears due to excess bone tissue, the width and thickness of its structure. Many people try to hide this drawback by using a huge amount of decorative cosmetics of different shades - foundation, blush, powder. But this is rather a temporary solution that will only create an optical illusion.

But the tricks of a makeup artist are not always able to fully help in solving this problem. That’s why you should consult a doctor and arrange for rhinoplasty of the wide bridge of the nose. This is done in one of three ways.

Osteotomy

Osteotomy, or controlled fracture of the nasal bones to move them closer together. This forces the nasal bones inward, narrowing the appearance of the bridge of the nose. To perform this procedure, an osteotome is used, a special medical cutter that allows sufficient mobilization and displacement of the nasal bones.

This procedure is most often done with the removal of a hump on the nose, even if the bridge of the nose itself was not wide before the procedure. This is done specifically so that when the first defect is removed, the second one does not visually manifest itself. This procedure has a second advantage: in addition to correcting the defect, it is possible to avoid the formation of a flat bridge of the nose.

An osteotomy removes segments of bone that were separated using an osteotome. The rips are made along the sides of the nose and look somewhat like holes around a postage stamp. This gap is controlled.

But if the patient has previously suffered an injury, then it is impossible to determine the fracture line. It is impossible to predict how the bone tissue will behave in this case. This can cause bone fragments to migrate. This leads to a negative result. That is why you should definitely tell your doctor whether you have had any injuries in the facial area, even in early childhood.

Cartilage transplantation

A cartilage graft on the bridge of the nose makes it possible to change its configuration. This makes it possible to visually narrow it. It is better to use native cartilage taken from other parts of the body, but sometimes a synthetic analogue is also used.

If the patient’s cartilage tissue is taken, then only from the nasal septum or in the area of the ribs. Ideally, take it on the ribs, since there it is most resistant to deformation. The ear cartilages are too curved and their use is gradually being phased out. Moreover, they often change shape, creating unevenness on the bridge of the nose.

Set of methods

In some cases, the doctor combines both methods to achieve the best result. Typically, this approach is used for complex operations and when it is necessary to restore the structure of the nasal tissues after injuries or unsuccessful previous procedures.

Augmentation rhinoplasty

It is used if the nose has a wide and flattened shape, which is also called negroid. In this case, there is only one solution - to raise and enlarge the bridge of the nose. A kind of frame is installed under the skin in the right place, which creates the desired shape. For this purpose, the patient's own tissue is usually used.

Actress Jennifer Aniston once resorted to this procedure. Marilyn Monroe did not hesitate to seek such help at the very beginning of her career. This type of rhinoplasty was the first step in her own acting life for Halle Berry, who with her newfound appearance went to the star Olympus by leaps and bounds.

How does the healing process occur?

After surgery, this part of the face heals at about the same rate as any other bone tissue in your body. This depends on the characteristics of a particular organism, and therefore you will have to not only wear a special cast for some time, but also follow a number of rules and procedures.

During the healing process, the formation of initial material called callus occurs. It is he who brings the shape of the nose back to normal after such an intervention. But the problem is that some patients return with indignation to the surgeon because of the growing callus at the intervention site. In fact, the doctor is not to blame here, since this is truly a feature of a particular organism. In such cases, only minor corrections are needed.

Considering that the base of the nose has been changed, you may experience a feeling of stuffiness due to the narrowing. And at first, due to swelling, you may also experience a runny nose. The feeling of nasal congestion often occurs precisely because of the growth of bone tissue, which physically reduces the space allocated for the nasal cavity.

If the bridge of the nose remains wide

There have been a certain number of cases where patients complained of a wide bridge of the nose after rhinoplasty. This could be for a number of reasons:

The doctor performed the osteotomy inadequately or incorrectly.
Extremely wide nasal bones may require an intermediate osteotomy, which will only be a step in preparation for the final correction of the bridge of the nose.
Due to the wide horizontal sections of the nasal bones. By removing the medial parts of the nasal bone tissue, this problem is solved.

It is not always possible to get the ideal shape right away. If the doctor did not stipulate that this operation would be intermediate and this is not indicated in the contract, then this is a clear mistake by the surgeon. In this case, it is better to go to another clinic for revision rhinoplasty. But do not rush to sound the alarm until the swelling and bruising on your face completely disappears. Sometimes they create the effect of a wide bridge of the nose. Over the course of a year, the shape will become stable and you can adequately decide whether to schedule a repeat operation. According to the unspoken rule of plastic surgeons, if the first plastic surgery was unsuccessful, then the second one is free, but it’s up to you to decide whether you should contact the same specialist.

After rhinoplasty of the bridge of the nose

Full healing occurs throughout the year. The doctor will tell you how rehabilitation is going in your specific case. But in general, the process of complete recovery occurs in two stages. During the first, postoperative swelling on the face subsides. The speed at which this stage passes depends on whether there has been previous surgery in this area, as well as on whether there is scar tissue. The individual characteristics of the patient’s body also play an equally important role.

If the patient has thin skin, tissue swelling may persist for months. People with thick skin can retain swelling for up to several years, during which the shape gradually changes. Once the swelling has gone down, healing continues. The scar tissue should shrink over time, lighten and become visually invisible. By the way, people with thick skin take much longer to recover.

It should be borne in mind that with the gradual reduction of the nose, the skin envelope should gradually shrink, repeating the anatomical shape. If the skin is thin and the nose is large, then this process can take many months. Therefore, dissatisfaction with one’s appearance in the early stages haunts literally all patients.

If the nose has been significantly reduced, then the skin may not recover to the desired size, creating a new deformation. That is why you should look for a more qualified specialist who, during the first operation, will take into account all the nuances and possible complications, because such problems can be solved.