Wide flat bridge of the nose. Differential diagnosis of hereditary forms of growth retardation in children

Yulia Kamalova, student at the British high school design, became the winner of the national stage of the international competition for young engineers James Dyson Award 2016. Yulia’s design of a nest for phototherapy of newborns SvetTex allowed her to win the first stage of the competition. The SvetTex invention can create the most comfortable treatment conditions for infants and protect the eyes of young patients from blinding light during phototherapy. In addition, it protects medical...

Discussion

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

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

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

Heart 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 a 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. For the treatment of hyperbilirubinemia (increased levels of bilirubin in the blood), intravenous transfusions of a 5% glucose solution (it is a precursor of glucuronic acid, which binds bilirubin in the liver), ascorbic acid and phenobarbital (these drugs increase the activity of liver enzymes) were previously widely used. 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 fold in inner corners eye, 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.

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

Head of a newborn baby

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

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

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

If you carefully and carefully feel the head of a newborn baby, you can easily detect the so-called fontanelles. They are a soft area of ​​skin between the bones of the skull; when you press lightly with your finger on such areas, you can feel some pulsation. The largest fontanel is located just above the top of the head, the second is slightly lower from the large one. As the baby grows, his fontanelles tighten; As a rule, by the age of one year they completely disappear.

Newborn baby's face

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

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

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

Experts say that a newborn is able to distinguish smells almost immediately after birth. Even they can boast of a good sense of smell. In this regard, a young mother should remember: experiments with eau de toilettes/deodorants are best left for later if she wants to breastfeed her baby for a long time.

If the baby is large, then, most likely, some deformation of the face will be visually noticeable: during the birth process, not only the bones of the skull, but also the bones on the child’s face shifted. A young mother will not find such a face attractive, but by the time she is discharged, the baby’s skin will have time to smooth out and he will appear before his dad (and other relatives) in his very beauty.

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Not all parents know that strabismus in infants is often 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:

1. 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).
2. 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 is considered a pathological condition and is a reason to consult 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:

1. 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.
2. Toys should only be large sizes.
3. 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.
4. At the age of two months, undergo a scheduled examination by a specialist and follow all his recommendations.

Treatment

On this moment There are 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:

1. Until all symptoms are completely eliminated, the child is given corrective glasses or soft lenses.
2. To improve the functioning of the affected eye, the occlusion method is used. It consists of closing the healthy eye for a while and forcing the sick one to work.
3. A variety of techniques are used to restore binocular vision.
4. 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. Proper prevention will help avoid the transition of physiological strabismus to pathology.

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 hereditary pathology childhood clinically expressed by a sharp retardation of children's growth. 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 of diseases accompanied by growth retardation with 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). The average age of fathers of probands has increased.

Hypochondroplasia. Growth retardation is mainly observed after 3-4 years. Sharp shortening of the limbs. Face without pathological features. Wide rib cage. 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. Sharp growth retardation (average adult height 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 the trabecular structure of 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. Small face with a low nasal septum. Dolichocephaly. Disproportionally 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 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 the 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-shaped deformity of the 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. Sharply increased light sensitivity skin. 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. The diseases are hereditary disorders of glycosaminoglycan metabolism 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, large 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 appear at 1-3 years of life. 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 of the 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. The patients had clinical signs of growth hormone deficiency with elevated serum levels of this hormone. 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 has been increased. 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 elbow joints. Mental retardation.

Rg - cone-shaped epiphyses, hypoplasia of the head of the radius, horizontal arrangement of the 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 of the 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 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 a 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 distal phalanges. Type of inheritance: autosomal dominant, autosomal recessive.

Thus, among hereditary forms Growth retardation can be classified into 33 diseases, 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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Congenital pathology in the form of congenital malformations can occur in critical periods intrauterine development under the influence of factors external environment(physical, chemical, biological, etc.). In this case, there is no damage or change in the genome.

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

Deviations in the development of an organ or organ system can be severe with severe functional deficiency or just a cosmetic defect. Congenital malformations are detected in the newborn period. Small deviations in the structure, which in most cases do not affect normal function organ are called developmental anomalies or stigmas of disembryogenesis.

Stigmas attract attention in cases where there are more than 7 of them in one child, in which case a dysplastic constitution can be stated. There are difficulties in clinical assessment dysplastic constitution, since one or more stigmas may be:

1. variant of the norm;
2. a symptom of a disease;
3. independent syndrome.

List of main dysplastic stigmas.

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

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

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

Eyes: microphthalmos, macrophthalmos, oblique incision of the eyes, epicanthus (vertical skin fold at the inner corner of the palpebral fissure).

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

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

Spine: extra ribs, scoliosis, vertebral fusion.

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

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

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

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

Defects that can arise either as a result of mutation, or be inherited, or occur due to the adverse effect of a damaging factor on the fetus, include: congenital dislocation of the hip, clubfoot, cauda equina, nonunion hard palate and upper lip, anencephaly (complete or almost complete absence brain), congenital heart defects, pyloric stenosis, spina bifida (spina bifida), etc.

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

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

Fetal malformations may be:

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

Chromosomal genetic malformations of the fetus

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

The most common chromosomal genetic defects that doctors encounter are:

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

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

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

A pregnant woman is advised to consult a geneticist if:

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

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

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

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

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

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

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

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

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

Hereditary metabolic disorders

Features of hereditary metabolic disorders include a gradual onset of the disease, the presence of a latent period, worsening signs of the disease over time, and are more often detected during the growth and development of the child, although some may appear from the first days of life.

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

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

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

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

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

The possibilities for early detection of hereditary diseases have significantly expanded with the introduction of prenatal diagnostic methods into practice. Most fetal diseases are diagnosed by examining the amniotic fluid and the cells it contains. Everyone is diagnosed chromosomal diseases, 80 gene diseases. In addition to amniocentesis, ultrasound examination and determination of β-fetoprotein in the blood of pregnant women and in amniotic fluid are used, the level of which increases with damage to the central nervous system of the fetus.

Non-hereditary fetal malformations

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

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

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

Embryopathies include:

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

Fetopathies. The fetal period lasts from the 4th week of the intrauterine period until the birth of the child. It, in turn, is divided into early - from the 4th month. up to 7 months, and late - 8 and 9 months. pregnancy.

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

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

The following dangerous external factors are known:

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

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

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

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