Why do newborns have a wide nose bridge? 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 colour iris, irregular pupil shape.

In the ear area: large protruding ears, small deformed ears, ears of different sizes and shapes, low 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.

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, chromosomal disorder, but reveal genetic cause and the nature of this phenomenon was discovered 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;
earlobes are small, ears deformed, 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 with imperfections in the muscles and skeletal systems child. These are signs that occur in 70-90% of all newborns with Down syndrome. Less common, but still not uncommon, are the 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 the reduced size compared to the usual size) oral cavity and decreased 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 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 fontanelle 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 physiological norm, which is simply a feature of a newborn baby and is not related to 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 The child has.

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: 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 full life, experience moments of joy and happiness, achieve success and victories! It’s just that their future depends almost entirely on you and me, adults. After all, it is not their fault that they were born special.

Especially for - Margarita SOLOVIOVA

Yulia Kamalova, student at the British high school design, became the winner national stage international competition young engineers James Dyson Award 2016. Yulia’s design of a nest for phototherapy of newborns, SvetTex, allowed her to win the first stage of the competition. The invention of SvetTex is capable of creating the maximum comfortable conditions treating infants and protecting the eyes of young patients from glare during phototherapy. In addition, it protects medical...

Discussion

No specialist at 10 months, based on an external examination, can confirm or refute the diagnosis of FAS. Both are unprofessional - the one who said that FAS exists, and the one who said that there is no FAS. With a developmental delay of 10 months. for 4 months, that is, almost 40% FAS may well be. it may not be. If it is unknown whether the mother drank, it is USELESS to make predictions.

08/18/2010 11:23:52, Natalya L

It’s good that you were firm and found a cardiologist!

Heart disease and ischemia were also in my chart, and there... one more thing... in general terms (movement disorders, developmental delay and you go - it didn’t tell me anything specific, but I’m a specific person).
LLC was, 3mm, false chord. Strabismus - yes. Joint dysplasia, which was listed in the questionnaire, is not b-y-l-o

Thank God that we didn’t come across doctors like your pediatrician.

However, to be honest, I wasn’t going to listen to the doctors at all on the topic of whether to take it or not (the children were already at home when we examined them), so I ignored a lot of things, even if the doctors had something to tell me.

I was only interested specifically in what I absolutely had to do now.

How to properly care for a newborn's belly button
...The umbilical wound gradually heals, becoming covered with a hemorrhagic (dense “bloody”) crust. If the child continues to be in the maternity hospital at this time, then the umbilical wound is treated in the same way as before the umbilical cord remnant - once a day. With wide umbilical wound, possible sparse bloody secretions Your doctor may prescribe more frequent treatment. As with any wound, the hemorrhagic crust that forms on the umbilical wound gradually disappears. If healing proceeds well, then after the thick crust falls off there is no discharge from the wound. Sometimes, when a large crust falls off (this happens with a wide umbilical wound), droplets of blood may be released, the wound is “undercovered...

Jaundice of newborns. Newborn

Types of jaundice in newborns. Causes of jaundice, treatment of jaundice
...That's why doctors in maternity hospitals carefully monitor the level of bilirubin in the blood of all newborns. When jaundice appears, newborns should be given this test 2-3 times during their stay in the maternity hospital to determine whether there is an increase in the concentration of bilirubin in the blood. The mother may ask whether such tests were taken from the child. To treat hyperbilirubinemia (increased levels of bilirubin in the blood), intravenous transfusions of a 5% glucose solution (it is a precursor of glucuronic acid, which binds bilirubin in the liver) were previously widely used. ascorbic acid and phenobarbital (these drugs increase the activity of liver enzymes), choleretic agents(they accelerate the excretion of bilirubin with bile), adsorbents (agar-agar, cholestyramine) that bind bilirubin in the intestine and prevent its reabsorption. ABOUT...

This is why the baby trains its arms and legs inside its mother’s belly in order to learn how to use them after birth. Wouldn't it be violence against nature if we began to restrict his freedom? In general, it is human nature to think that he is smarter and wiser than nature. So what if, in the process of evolution, mammals came to land to give birth to their children? We inevitably have the opinion that the continuation of the water environment is better for the newborn baby than falling into the air, and we go to give birth in the water. So what, what does a person’s dentition say about his adaptability to omnivory (a combination of herbivorous and predatory lifestyles)? For us, this is not an argument, and we come up with a theory about the contamination of the body with toxins when eating meat, about achieving special spiritual growth by refusing it - and we turn into vegetarianism...

Discussion

And I'm swaddling. More precisely, she swaddled until 2.5 months. Convenient and all that. They almost immediately stopped using diapers at night - it was unpleasant to sleep wet, so I only pooped before or during night feedings. True, everyone told me that I was swaddling incorrectly - too weakly, I always pulled my hands out. He kicked his legs inside calmly. Now the diapers are already on the bed and sometimes when the onesies are all wet. He climbs out of them once or twice. I will say a few words in defense of diapers - 1. Cheaper than diapers and onesies. 2. More comfortable than wearing rompers or a bodysuit (can you imagine how to take off a bodysuit if you pooped over your head?) 3. The butt breathes. Especially in blue diapers.
And in addition I will say: why limit yourself to only swaddling or only diapers, if it is more reasonable to use both? For example, in the morning, in order to get enough sleep and not change diapers every 5 minutes, use a diaper, and at night and while walking? And the rest of the time, diapers and rompers.

2. The presence at the same time of several signs characteristic of FAS (they have already been described below), and again there are problems in the child’s development.

In addition, there is different degrees FAS: Intelligence may or may not be affected or may be partially affected. Problems in behavior are possible, but again - different.

In general, in any case, you need to look at the child: watch how he understands and remembers/applies new information and skills; look at how disinhibited he is in his behavior (whether this is acceptable for you or not); and look especially carefully to see if you just like him (believe me, if you really like a child, problems are experienced and solved easier).

A neurologist noticed me today and referred me to a geneticist in Filatovka. An extra fold on the palm - what kind of animal? Has anyone encountered this?

Discussion

SD is usually so clearly visible different signs that it can be installed immediately after birth. The child is at least “ugly”. Even the mother herself can see all these signs when comparing the child with other newborns.
Therefore, I think you are not in danger of SD, since no one immediately suspected anything.
But what another gene. There may well be a pathology. And this fold is rare, but it also happens in children who are absolutely healthy in terms of genetics. What I sincerely wish for you!

How can one suspect the presence of Down syndrome in a newborn?

In such children, attention is drawn to the Mongoloid shape of the eyes, the skin folds in inner corners eyes, wide bridge of the nose, deformed ears, flattened back of the head. Their mouth cavity is slightly smaller than normal and their tongue is slightly enlarged, which is why children can stick it out. The fingers are shortened, the little fingers are curved, and there can be only one transverse fold on the palm. On the legs the distance between the first and second toes has been increased. The skin is moist, smooth, the hair is thin and dry. Muscle tone, is often reduced, which causes another characteristic feature- mouth constantly slightly open.
Often these signs are so weakly expressed that they can only be noticed by experienced doctor or midwife.
If you suspect that your baby has Down syndrome, it is necessary to conduct chromosomal tests to confirm the diagnosis.

Thirty-three inherited growth retardation disorders have been reported. Attention is drawn to their phenotypic similarity and the real difficulties of distinguishing them from each other. It is proposed to select two groups and a table differential diagnosis .

A significant part of the hereditary pathology of childhood is clinically expressed by a sharp retardation of the growth of children. The variety of nosological forms and the relatively low frequency of many of them create great difficulties in the process of differential diagnosis of these conditions.

From the standpoint of differential diagnosis, it is advisable to divide a large group of diseases into separate subgroups - growth retardation against the background of a sharp disproportion of the skeleton and growth retardation with a proportional shape of the skeleton.

A. Differential diagnosis diseases accompanied by stunting and severe skeletal disproportion

This group is extremely heterogeneous. It includes diseases classified according to the classification of M.V. Volkov, E.M. Meersov et al. to epiphyseal dysplasia - pseudochondroplasia, etc.; physeal - achondroplasia, etc.; spondyloepimetaphyseal - parastrematic dysplasia, etc.; diaphyseal dysplasia - imperfect bone formation, etc.; representatives mixed forms systemic diseases skeleton - Ellis-van-Creveld disease; mucopolysaccharidoses.

Most nosological forms are characterized by the manifestation of clinical signs from birth or from the first months of life. In a number of diseases (Seckel syndrome, Russell-Silver syndrome, etc.), children are born with a short body length. Below is a brief clinical characteristics diseases.

Achondroplasia. Dwarfism with pronounced shortening of the limbs. Pronounced frontal tubercles. Sunken bridge of the nose. Prognathism. Waddle, "duck" gait. Lumbar lordosis. In most cases, patients have normal intelligence.

X-ray findings: shortening of the proximal parts of the limbs. Kyphosis. Shortening of the femoral neck. Elongation of the fibula. Narrowing of the distance between the roots of the arches of the lumbar vertebrae. Frequency - 1: 10.000. Type of inheritance: autosomal dominant. About 80% of cases are sporadic (fresh mutations). Average age fathers of probands increased.

Hypochondroplasia. Growth retardation is mainly observed after 3-4 years. Sharp shortening of the limbs. Face without pathological features. Wide chest. Lordosis. Sometimes - slight flexion contractures in the elbow joints.

Rg - shortening of the limbs, some lengthening of the fibula, wide hands, disruption of the structure of the vertebral bodies. The type of inheritance is autosomal dominant. An increase in the age of fathers was noted.

Parastrematic dysplasia. Severe growth retardation ( average height adults 90-110 cm) in combination with multiple skeletal deformities. There is a "twisting" of the bones around the axis. Short neck. Kyphoscoliosis. Varus and valgus deformities of the legs. Multiple contractures of large joints.

Rg - coarse trabecular bone structure with areas of dense dots and streaks - “flaky” bones. Zones of enchondral ossification are transparent and expanded. The vertebral bodies are flattened. The pelvic bones are dysplastic. Metaphyses and epiphyses tubular bones deformed. The type of inheritance is autosomal dominant.

Langer's mesomelic dysplasia. A sharp retardation in growth with pronounced shortening of the limbs, especially the forearms. Intelligence preserved.

Rg - hypoplasia of the ulna and fibula.

Type of inheritance: autosomal dominant.

Rhizomelic dysplasia. Growth retardation with sharp shortening of the proximal limbs. Microcephaly. Low nasal septum. Mental retardation. 70% of patients have cataracts. Multiple joint contractures.

Rg - vertebral dysplasia. Disturbance of trabecular structure long bones. Curvature of tubular bones.

Type of inheritance: autosomal dominant, autosomal recessive.

Camptomelic dysplasia. The name comes from the Greek words: kamptos - bend, melos - limbs. Prenatal growth deficiency. The length of children at birth is 35-49 cm. A small face with a low nasal septum. Dolichocephaly. Disproportional short limbs. Hypoplasia of the scapula. Kyphoscoliosis.

Rg - curvature of the tibia, shortening of the fibula. Thin, short collarbones. Incomplete development of cartilage. The type of inheritance is autosomal recessive.

Diastrophic dysplasia. The name comes from the geological term diastrophism, which refers to the processes of bending of the earth's crust that result in the formation of mountains and oceans. Prenatal growth deficiency. Severe growth retardation in later life. Significant shortening of the limbs. Kyphoscoliosis. Clubfoot. Limitation of movements in the finger joints. Sometimes there is cleft palate, hypertrophy ear cartilage, subluxation of the cervical vertebrae.

Rg - calcification and ossification of ear cartilage. Ankylosis of the proximal interphalangeal joints. Shortening and thickening of tubular bones. Subluxation of the hip joint. The type of inheritance is autosomal recessive.

Metatrophic dysplasia. Severe growth retardation with shortening of limbs. Narrow chest with short ribs. Kyphoscoliosis. Limitation of joint mobility.

Rg - platyspondyly, increase in intervertebral spaces. Wide metaphyses. Hypoplasia of the pelvic bones. The type of inheritance is autosomal recessive.

Pseudoachondroplasia. Growth retardation is observed mainly in the second year of life. The height of adults does not exceed 130 cm. There is a sharp shortening of the limbs, especially the proximal parts. Kyphoscoliosis. Lordosis. Rocking gait. Hallux valgus and viral deformity lower limbs. Increased joint mobility. There are no anomalies of the face or skull.

Rg - wide pelvis. Wings iliac bones rectangular. The femoral heads are small. The epiphyses are small, the metaphyses have uneven contours, with areas of rarefaction. Delay in the formation of ossification nuclei of the carpal bones. Type of inheritance: the disease is genetically heterogeneous, both autosomal dominant and autosomal recessive forms are found.

Schmid's metaphyseal chondrodysplasia. This is the most common form of metaphyseal chondrodysplasia. Moderate growth retardation (adult height - 130-160 cm). The first signs appear in the second year of life. Significant varus curvature of the legs. "Duck" gait. Lumbar lordosis. Rg - changes in the metaphyses of tubular bones, especially the lower extremities - the contours are uneven, fringed, extensive zones of uneven rarefaction. The type of inheritance is autosomal dominant.

Imperfect bone formation. One of the most common and well-known hereditary lesions skeletal system. The pathology is genetically heterogeneous. It is divided into various clinical and genetic types, the main of which are - congenital form(type B roller) and late (Lobstein syndrome).

Congenital form of Vrolik- prenatal growth deficiency. Multiple intrauterine and postnatal fractures, especially affecting long bones, ribs and clavicles. Secondary deformation and shortening of the bones of the limbs. Blue sclera. Megacephaly. Late closure of fontanelles and skull sutures. Extreme softness - “rubbery” quality of the skull. The course is severe, usually children die in the first months of life. The type of inheritance is autosomal recessive.

Late Lobstein form- pathological fragility of bones. Growth retardation. Blue sclera. Hearing loss. Keeled or funnel deformity chest. Kyphosis. Deformation of the pelvic bones. Saber shins. Dentin hypoplasia. Increased mobility joints.

Rg - thinning of the compact layer of tubular bones. Osteoporosis. The type of inheritance is autosomal dominant.

Bloom's syndrome. Prenatal growth retardation is combined with skin changes. Congenital telangiectatic erythema in the form of a butterfly is observed on the face and forearms. The light sensitivity of the skin is sharply increased. There are areas of skin hyperpigmentation and café-au-lait spots. Small narrow face. Premature wrinkles. Hypogenitalism, cryptorchidism. High timbre of voice. The type of inheritance is autosomal recessive.

Ear-palato-finger syndrome. Growth retardation. Violation of psychomotor development and speech development. Prominent forehead. Hypertelorism. Anti-Mongoloid eye shape. Small nose and mouth. Cleft palate. Conducted deafness. Widely spaced toes. Limitation of movements in the elbow joints due to subluxation of the radial head.

Rg - hypoplasia facial bones.

Type of inheritance: recessive, linked to the X chromosome.

Weil-Marchesani syndrome. Growth retardation. Brachycephaly. Hypoplasia of the upper jaw. Hypodactyly. Gothic palate. Brachydactyly. Lens subluxation, secondary glaucoma. The type of inheritance is autosomal recessive.

Ellis van Creveld disease. (Chondroectodermal dysplasia). Dwarf growth with normal length torso and shortened limbs. Polydactyly. Hypoplasia of teeth and nails. Alopecia. Sometimes - congenital heart defects. Short upper lip.

Rg - shortening of the distal limbs. Slow development of ossification nuclei. Polydactyly, Multiple exostoses. The type of inheritance is autosomal recessive.

Mucopolysaccharidoses. Diseases are hereditary disorders metabolism of glycosaminoglycans and belong to storage diseases - lysosomal diseases. A number of types of mucopolysaccharidoses are clinically characterized systemic damage musculoskeletal system. This differential diagnostic group includes those with clearly defined growth disorders.

Hurler syndrome. Caused by a defect in the enzyme iduronidase. Clinically manifested from the first months of life. Sharp deformations of the skeleton and skull. Rough facial features. Hypertelorism. Epicanthus. A wide nose with a flattened bridge and everted nostrils. Big and thick lips. Often open mouth big tongue. Small, widely spaced teeth. Chronic rhinitis. Severe growth retardation. Short neck. Kyphosis with a hump in the lower thoracic and upper lumbar region. Big belly. Hepatosplenomegaly. Wide brushes with short fingers. Flexion contractures. Mental retardation. Inguinal and umbilical hernias. Hirsutism. Cloudiness of the cornea. Deafness.

Rg - cuboidal vertebral bodies. Kyphosis. Thickening of the collarbones and shoulder blades. Deformation pelvic ring. Flattening, reduction of the femoral heads. Delay in the formation of ossification nuclei. Severe deformities of the facial bones. Increased urinary excretion of dermatan sulfate and heparan sulfate. The type of inheritance is autosomal recessive.

Hunter syndrome. Caused by iduronate sulfatase deficiency. Clinical signs appear at 2-4 years of age. Growth retardation. Moderate bone deformities. Rough facial features. Hypertelorism. Flat bridge of nose with big nostrils. Thick lips. Macroglossia. Widely spaced teeth. Short neck. Joint contractures occur. Deafness. Mental retardation. Hepatosplenomegaly. Abdominal hernias. Hypertrichosis.

Rg - changes similar to Hurler syndrome, but less pronounced. Increased urinary excretion of dermatan sulfate and heparan sulfate. Type of inheritance: recessive, linked to the X chromosome.

Morquio syndrome. Caused by a deficiency of the enzyme chondroitin-6-sulfate-N-acetylglucosamine-4-sulfate sulfatase. Clinical symptoms appears at 1-3 years of age. Growth retardation. Significant deformations of the skeleton, especially the chest. Wide mouth. Speaker upper jaw. Short nose. Widely spaced teeth. Short neck. Kyphosis. Sharp keeled deformity of the chest. Movements in the joints upper limb limited. Valgus deformity legs and feet. Intelligence is normal. Cloudiness of the cornea. Hearing loss. Tendency to colds. Hernias. Hepatomegaly. Cardiopathy (sometimes).

Rg - platyspondyly. Severe osteoporosis. Kyphosis, scoliosis. Dental hypoplasia. Expansion of metaphyses. The femoral heads are flattened and fragmented. Delay of ossification nuclei of the wrist. Cone-shaped narrowing of the proximal ends of the metacarpal bones. Increased urinary excretion of keratan sulfate. Type of inheritance: autosomal recessive.

Maroteaux-Lamy syndrome. Caused by a defect in the enzyme arylsulfatase. First Clinical signs appear at 1-3 years of age. Severe growth retardation. Macrocephaly. Rough face. Hypertelorism. Big nose, thick lips. Macroglossia. Short neck. Barrel chest. Kyphosis (sometimes). Flexion contractures in joints. Valgus deformity of the legs. Clouding of the cornea leading to blindness. Deafness (sometimes). Inguinal, umbilical hernias. Hepatosplenomegaly. Intelligence is unchanged.

Rg - deformation of the pelvic ring. Thinning of the femoral neck. Round biconvex shape of the vertebrae, concave posterior surface of the lumbar vertebrae. Increased urinary excretion of dermatan sulfate. Type of inheritance: autosomal recessive.

B. Differential diagnosis of diseases accompanied by severe growth retardation with a proportional skeletal shape

The vast majority of diseases included in this differential diagnostic group are characterized by low height at birth. In the future, as children develop, the growth retardation increases, but the physique remains proportional.

Pituitary dwarfism. Caused by dysfunction of the pituitary gland. The totality of data of modern clinical genetics and endocrinology made it possible to establish that there are several various forms pituitary dwarfism.

Pituitary dwarfism, type I. It has now been established that the disease is caused by (isolated) growth hormone deficiency. A sharp retardation of growth, which becomes especially obvious in the first 2 years of life. Thick skin. Subtle voice. The type of inheritance is autosomal recessive.

Laron's disease. Patients had clinical signs of growth hormone deficiency with elevated level of this hormone in the blood serum. In this case, the formation of somatomedin in the liver appears to be affected.

Cornelia de Lange syndrome. Severe growth retardation. Brachycephaly. Microcephaly. Dense, fused eyebrows, long eyelashes. Hirsutism. Hypertelorism.

Short nose, sunken bridge. The distance between the nose and upper lip. Low hair growth on the forehead and back of the head. A bluish tint to the skin in the area of the eyes, nose, lips, due to increased venous pattern. Small hands and feet. Clinocamptodactyly (sometimes). Contractures of the elbow joints. Mental retardation.

Rg - cone-shaped epiphyses, hypoplasia of the head radius, horizontal arrangement ribs Frequency among newborn children: 1: 30.000-1: 50.000. Type of inheritance: unclear, polygenic inheritance possible. Most cases in pedigrees are sporadic.

Seckel syndrome. Prenatal growth deficiency. Microcephaly. Narrow face. Low position ears. Nose in the shape of a bird's beak. Micrognathia. Coarse hair. Keeled chest. Scoliosis, kyphosis. Clinodactyly. Subluxation hip joints. Mental retardation, negativism, tearfulness. Malformations of the kidneys, liver, genitals. Hypergammaglobulinemia. Hyperaminoaciduria. Transverse groove on the palm.

Rg - digital impressions on the skull, lesser sella turcica. Hypoplasia of the radius and fibula.

Russell-Silver syndrome. Prenatal growth deficiency, later - its sharp lag. A small, triangular face with the corners of the mouth downturned. Hypoplasia of the lower jaw. Late closure of fontanelles and teething. Body asymmetry - hemihypertrophy or limb length asymmetry. Clinodactyly. Brachydactyly. Scoliosis, due to asymmetry of the torso. Cafe au lait spots on the skin. Precocious puberty.

Dubovich syndrome. Prenatal growth deficiency followed by retardation. Microcephaly. High forehead wide nose With flat bridge of the nose. Facial asymmetry (sometimes). Hypertelorism. Blepharophimosis. Ptosis. Micrognathia. Low position of the ears. Coarse hair. Polydactyly. Clinodactyly. Mental retardation (not always). High voice. On the skin - eczema and psoriasis. Hypospadias, cryptorchidism.

Rg - periosteal hyperostosis of long bones, various anomalies of the ribs.

The type of inheritance is autosomal recessive.

Rubinstein-Taybi syndrome. Short stature. Microcephaly. Hypertelorism. Prominent forehead. Ptosis. Strabismus. Long eyelashes. High palate. Beaked nose. Micrognathia. Anomalies of bite and position of teeth. Low position of the ears. Mental retardation. Wide terminal phalanges thumbs arms and legs. Brachydactyly. Polydactyly. Clinodactyly. Scoliosis. Hypermobility of joints. Cryptorchidism. Cataract, hypermetropia, optic atrophy (sometimes). Various vices internal organs. Transverse groove on the palm.

Rg - wide, thickened distal phalanges of the thumbs. Defects of the spine, sternum and ribs.

Type of inheritance: unclear. Most cases are sporadic.

Leprechuanism. Children are often born prematurely. There is marked retardation in height and weight. Microcephaly. Hypertelorism. Large, low-set, protruding ears. Grotesque facial features. Flat nose with wide nostrils. Large mouth with thick lips. Exophthalmos. Large hands and feet. Delayed psychomotor development. Cryptorchidism. Enlargement of the labia, clitoris. Umbilical, inguinal hernia. Skin folding. The course is severe - children usually die in the first year of life. Hyperinsulinemia. Low level alkaline phosphatase.

Rg - delay in the formation of ossification nuclei.

Type of inheritance: autosomal recessive.

Smith-Lemli-Opitz syndrome. Prenatal growth deficiency followed by retardation. Microcephaly. Short snub nose. Increasing the distance between the nose and upper lip. Micrognathia. Cleft palate or uvula. Strabismus. Low position of the ears. Short neck. Syndactyly (cutaneous). Brachydactyly. Mental retardation. Pyloric stenosis, in early childhood vomiting is noted. Hypospadias, cryptorchidism. Transverse groove on the palm. Heart defects (sometimes). Hernias (sometimes). Type of inheritance: autosomal recessive.

Noonan syndrome. Growth retardation. Broad forehead. Hypertelorism. Ptosis. Epicanthus. Sad expression. High palate. Anomalies of teeth. Splitting of the tongue. Low position of the ears. Coarse hair. Low hair growth at the back of the head. Kyphoscoliosis. Clinodactyly. Autism. Wing-shaped fold on the neck. Delayed secondary sexual characteristics. Anomalies urinary tract. Hepatosplenomegaly (sometimes). Congenital lymphedema of the hands and feet. Karyotype is normal. Type of inheritance: autosomal dominant.

Hanhart syndrome. A sharp retardation of growth mainly from the second year of life. Obesity. Delayed secondary sexual characteristics. Delay in the formation of ossification nuclei. The type of inheritance is not clear.

Familial osteopetrosis. Growth disturbance. Macrocephaly. Prominent forehead. Ptosis. Strabismus. Anomalies of teeth, caries. Frequent multiple fractures. Deafness (sometimes). Cataract, atrophy optic nerve(Sometimes). Delayed psychomotor development. Hepatosplenomegaly. Anemia. Lymphocytosis.

Rg - diffuse osteosclerosis (marble bones). Partial aplasia of the distal phalanges. Type of inheritance: autosomal dominant, autosomal recessive.

Thus, among the hereditary forms of growth retardation, 33 diseases can be distinguished, each of which is relatively rare. These diseases have much in common phenotypic traits. The proposed differential diagnostic tables can greatly facilitate the differentiation of similar diseases.

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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 the newborn baby often experiences weakness oculomotor muscles, for this reason heterotropia develops.

Movement control is not always available to him at birth 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 may go away a month after birth, or three, it is normal in six month old baby this phenomenon should not be observed.

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

Distinguish the following types diseases:

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 in closing for a while healthy eye, make sick work.
A variety of techniques are used to restore binocular vision.
If the child turns four years old, then complex treatment orthopedic and acupuncture therapy is used.

When found paralytic form Strobism requires consultation with a pediatric neurologist!

If there is no effectiveness, the doctor may recommend surgery. It is carried out under general anesthesia. After this, the child undergoes rehabilitation and strengthens 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. Correct prevention will help to avoid the transition of physiological strabismus to pathology.