Why do newborns have a wide nose bridge. Congenital and hereditary diseases of newborns

Stigmas - very small malformations that appear as a result of adverse effects harmful factors to 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 deviations in health should be expected from the child, and also that parents with such a child should consult a geneticist.

The most common stigmas

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

In the facial area: sloping forehead, Mongoloid and anti-Mongoloid incision of the eyes, hypo- and hypertelorism, saddle nose, flattened back of the nose, facial asymmetry. unusual shape jaws, underdeveloped chin, cleft chin, wedge-shaped chin.

In the eye area: epicanthus, low standing of the eyelids, asymmetry of the palpebral fissures, double eyelash growth, different colour iris, irregularly shaped pupils.

In the ear area: large protruding ears, small deformed ears, ears of different size and shape, low set ears, different level location of the ears, anomaly in the development of the form of curls and antihelix, accreted 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 area of the trunk: the trunk is long or short, the chest is depressed or keeled, barrel-shaped, asymmetrical, a large distance between the nipples, accessory nipples, agenesis of the xiphoid process, divergence of the rectus abdominis muscles, low standing of the navel, hernias.

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

In the area of the feet: brachydactyly, arachnodactyly, syndactyly, sandal gap, bident, trident, hollow foot, finding fingers on top of each other.

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

Waardenburg syndrome

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

syndactyly

fused fingers

Prognathism

hypoplasia mandible

syndactyly

fused fingers

Aarskog syndrome

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

Acrocephaly, anti-Mongoloid incision of the eyes, depressed bridge of the nose, prognathism

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

Detected stigmas in the face of a newborn may warn parents and doctors about possible violation neuropsychic development child, pathological manifestations higher nervous activity child in the future.

With such a child, you should definitely deal with it from birth, use developmental techniques in its upbringing at each age stage.

The expectation of a child is always shrouded in excitement, euphoria and mystery. Every mother looks forward to the first meeting with her child and firmly believes that this will be the most or one of the happiest moments in her life. But sometimes the twists of fate are very sharp, and not everyone is able to stay in the saddle.

It is worthwhile for doctors who take birth or examine a newborn in the first days of his life to suspect a child with Down syndrome, as the heart of the parents does not find peace. We want to immediately warn that the presence of this pathology is not diagnosed only by the appearance of the baby. However, the external signs of Down syndrome are so characteristic that an experienced midwife is able to immediately discern them in a newly born baby.

The most common signs of Down syndrome in newborns

In medicine, a syndrome is a set of signs that develop in a particular state of a person. Such a complex of common symptoms in the same patients in 1866 was noticed by John Down, after whom this syndrome is named. With Down syndrome, even at the stage of intrauterine laying and fetal development, chromosomal disorder but reveal genetic cause and the nature of this phenomenon was succeeded only a century after Down's discovery of patterns in the combination of identical signs.

Many of the symptoms of Down syndrome in a newborn baby are noticeable from birth., and therefore experienced obstetricians are able to recognize the anomaly immediately, taking delivery from a woman. Moreover, this phenomenon is quite common: on average, Down syndrome is diagnosed in one of 600-800 babies, and among all chromosomal anomalies, this is the most common.

Most of the children from the first days of life show the following signs:

the face looks flattened, flat compared to the faces of other newborns;
a skin fold forms on the neck;
at the inner corner of the eyes, the so-called “Mongolian fold” (or third eyelid) is formed;
the corners of the eyes are raised, the incision is oblique;
earlobes are small auricles deformed, the auditory passages are narrow;
"short" head (brachycephaly);
flattened nape;
muscle tone is reduced;
the joints are excessively mobile, dysplasia is formed;
the limbs are shortened (compared to the limbs of other children);
the middle phalanges of the fingers are underdeveloped, and therefore all the fingers look short, and the palm is flat and wide;
the height and weight of the child is below average, with age there is a tendency to gain excess weight.

Most of the differences are associated with skull deformities and features of the facial features, as well as imperfections in the muscular 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 external differences that are observed in about half of all downy from infancy:

the small mouth (jaws) of the child remains ajar all the time;
the child is diagnosed with an arched narrow palate;
a large tongue is protruded from the mouth (due to the reduced size compared to the usual oral cavity and decreased muscle tone).
the chin is smaller than usual;
the little finger is curved and usually bends towards the ring finger;
the formation of furrows (folds) in the tongue (manifested as the child grows);
flat bridge;
the neck is shortened;
short nose, wide bridge of nose;
a horizontal fold is formed on the palms (“monkey line”) - due to the merger of the lines of the heart and mind;
the big toe is located at a distance from the other fingers (a sandal-shaped gap is formed), and a fold forms on the foot under it;
further examination often reveals malformations of the cardiovascular system.

What other signs of Down syndrome are there in newborns?

Already only these signs described above may be enough to suspect Down's syndrome in a newborn child. But there are still some external differences between such babies, which “pop up” during a more detailed examination and examination of the baby, which may indicate this chromosomal disorder:

strabismus;
pigmented spots along the edge of the iris of the pupils ("Brushfield spots") and clouding of the lens;
violation in the structure of the chest, it bulges anteriorly or sinks inward (keeled or funnel-shaped chest);
tendency to epileptic seizures;
stenosis or atresia duodenum and other malformations of the digestive system;
defects of the organs of the genitourinary system;
congenital blood cancer (leukemia).

These signs occur in 8-30% of all cases. Also an infant with this chromosomal abnormality may have an extra fontanel or the fontanelles do not close for a long time. But a newborn child with Down syndrome may also not have bright characteristic external features: differences will appear later.

It is noteworthy that children with Down syndrome are very similar to each other, like brothers and sisters, while it is impossible to recognize parental features in their faces.

Diagnosis of Down syndrome in newborns

Most of the symptoms 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 not related to the described syndrome. And therefore, only on the basis of the presence of one or another symptom or a combination of several of them, the diagnosis of Down syndrome is not made. For an accurate medical conclusion, it is necessary to take a blood test for a karyotype, and only he can confirm or refute the presence this syndrome The child has.

Down syndrome has no gender preferences: both boys and girls are born equally often with an extra chromosome. But in addition to the features mentioned here, they have one more thing: experts say that downyats teach true love! No other child gives as much warmth, affection, sincerity, love and attention as they do. But exactly the same amount these special children require from their parents in return.

Therefore, if mom and dad feel in themselves humanity, humanity, kindness and love, love for their flesh and blood, then there is no reason to be tormented in despair. Yes, you may have to put in a little more effort and energy than other parents need. But children with Down syndrome can live full life, experience moments of joy and happiness, achieve success and victories! That's just almost entirely their future depends on you and me, adults. After all, it is not their fault that they were born special.

Especially for - Margarita SOLOVIEVA

Julia Kamalova, student of the British high school design, won national stage international competition young engineers James Dyson Award 2016. Yulia's SvetTex neonatal phototherapy nest project made her win the first stage of the competition. The invention of SvetTex is able to create the maximum comfortable conditions treatment of infants and to protect the eyes of young patients from blinding light during phototherapy. In addition, it protects the medical...

Discussion

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

18.08.2010 11:23:52, Natalya L

It's good that you showed firmness and found a cardiologist!

I also had heart disease and ischemia in my chart, and there ... something else ... in general terms (movement disorders, developmental delay and you dy - it didn’t tell me anything specific, but I’m a specific person).
OOO was, 3mm, false chord. Strabismus - yes. Joint dysplasia, which was listed in the questionnaire, not b-s-l-o

Thank God that we did not come across such doctors as your pediatrician.

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

I was only interested specifically: what I must do now.

How to properly care for the navel of a newborn
... 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 residue - once a day. With a wide umbilical wound, possible low sanious secretions more frequent treatment may be prescribed by the doctor. As in the case of any wound, the hemorrhagic crust formed on the umbilical wound gradually disappears. If the healing proceeds safely, 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), there may be a release of droplets of blood, the wound "teared ...

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 occurs, newborns should be given this test 2-3 times during their stay in the hospital to clarify whether there is an increase in the concentration of bilirubin in the blood. Mom may ask if such tests were taken from the child. For the treatment of hyperbilirubinemia (an increase in the level of bilirubin in the blood), intravenous transfusions of a 5% solution of glucose (it is a precursor of glucuronic acid that binds bilirubin in the liver) were widely used in the past, 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), which bind bilirubin in the intestine and prevent its reabsorption. O...

For this, the baby trains the arms and legs inside the 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 natural for a person to think that he is smarter and wiser than nature. So what, that in the process of evolution, mammals came to land to give birth to their children? We necessarily have an opinion that the continuation of the aquatic environment for a newborn baby is better than getting 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 omnivorousness (a combination of herbivorous and predatory lifestyles)? For us, this is not an argument either, and we come up with a theory about contamination of the body with toxins when eating meat, about achieving special spiritual growth when refusing it - and hit the vegetarian ...

Discussion

And I swaddle. More precisely, swaddled up to 2.5 months. Comfortable and all. They almost immediately stopped using diapers at night - it’s unpleasant to sleep wet, it hiccupped only before or during night feeding. True, everyone told me that I swaddled incorrectly - too weakly, I always pulled out my hands. His legs inside jerked calmly. Now the diaper is already on the bedding and sometimes when the sliders are all wet. Gets out of them once or twice. I will say a few words in defense of diapers - 1. Cheaper than diapers and sliders. 2. More comfortable than wearing sliders or a bodysuit (can you imagine how to take off a bodysuit if you poop over your head?) 3. The priest breathes. Especially in chinese 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, to get enough sleep and not change diapers every 5 minutes, use a diaper, also at night and for a walk? And the rest of the time diapers, sliders.

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

In addition, there different degrees FAS: the intellect may or may not be affected or may be partially affected. Behavioral problems are possible, but again - different.

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

A neuropathologist noticed today and sent me to a genetics specialist. Extra crease on the palm - what kind of animal? can anyone come across?

Discussion

SD is usually so clearly visible in different features that it can be installed immediately after birth. The child is at least "ugly". All these signs can be seen even by the mother herself, comparing the child with other newborns.
Therefore, I think that SD does not threaten you, since no one immediately suspected anything.
But what other gene. pathology may well be. And this fold is rare, but it also happens in absolutely healthy children in terms of genetics. What do you sincerely wish!

But how can you suspect the presence of Down syndrome in a newborn?

In such children, the Mongoloid incision of the eyes, the skin fold in inner corners eye, wide bridge of the nose, deformed auricles, flattened occiput. They have a slightly smaller mouth than normal and a slightly enlarged tongue, which is why children can stick it out. The fingers are shortened, the little fingers are curved, there can be only one transverse fold on the palm. On the legs, the distance between the first and second toes is increased. The skin is moist, smooth, the hair is thin, dry. Muscle tone, often reduced, which causes another feature- constantly open mouth.
Often these signs are so weak that they can only be noticed experienced doctor or a midwife.
If you suspect that the baby has Down syndrome, it is necessary to conduct chromosomal tests to confirm the diagnosis.

33 hereditary stunted diseases have been reported. Attention is drawn to their phenotypic similarity and real difficulties in distinguishing them from each other. It is proposed to single out two groups and a table differential diagnosis .

A significant part of the hereditary pathology of childhood is clinically expressed by a sharp growth retardation of children. The variety of nosological forms, 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.

BUT. Differential Diagnosis diseases accompanied by growth retardation with a sharp disproportion of the skeleton

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

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

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

X-ray data: shortening of the proximal parts of the limbs. Kyphosis. Shortening of the femoral neck. Lengthening 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 is increased.

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

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

Paratrematic 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 structure of bones with areas of dense dots and strokes - "flaky" bones. Zones of endochondral 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.

Mesomelic dysplasia Langer. A sharp lag in growth with a pronounced shortening of the limbs, especially the forearms. Intelligence saved.

Rg - hypoplasia of the ulna and fibula.

Type of inheritance: autosomal dominant.

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

Rg - vertebral dysplasia. Violation of the 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. Small face with a low nasal septum. Dolichocephaly. disproportionately short limbs. Hypoplasia of the scapula. Kyphoscoliosis.

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

Diastrophic dysplasia. The name comes from the geological term diastrophism, referring to the bending of the earth's crust, which results in the formation of mountains and oceans. Prenatal growth deficiency. A sharp lag in growth in later life. Significant shortening of the limbs. Kyphoscoliosis. Clubfoot. Limitation of movements in the joints of the fingers. Sometimes there is a splitting of the palate, hypertrophy ear cartilage, subluxation of the cervical vertebrae.

Rg - calcification and ossification of the 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. A sharp lag in growth with shortening of the limbs. Narrow chest with short ribs. Kyphoscoliosis. Limitation of joint mobility.

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

Pseudoachondroplasia. Growth retardation occurs mainly in the second year of life. The growth of adults does not exceed 130 cm. A sharp shortening of the limbs, especially the proximal sections, is expressed. Kyphoscoliosis. Lordosis. Rolling gait. Valgus and viral deformity lower extremities. Increased joint mobility. Anomalies of the face and skull are absent.

Rg - wide pelvis. Wings ilium rectangular. The heads of the thighs are small. The epiphyses are small, the metaphyses are uneven contours, with areas of rarefaction. Delay in the formation of nuclei of ossification of the bones of the wrist. 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. Growth retardation of moderate severity (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. 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's syndrome).

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

Late form of Lobstein- Pathological fragility of bones. Growth retardation. Blue sclera. Hearing loss. keeled or funnel deformity chest. Kyphosis. Deformity of the pelvic bones. Saber shins. Hypoplasia of the dentin. Increased mobility joints.

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

Bloom syndrome. Prenatal stunting is associated with skin changes. There are congenital telangiectatic erythema in the form of a butterfly on the face and forearms. The light sensitivity of the skin is sharply increased. Areas of hyperpigmentation of the skin, spots of the color "coffee with milk" are noted. Small narrow face. premature wrinkles. Hypogenitalism, cryptorchidism. High tone of voice. The type of inheritance is autosomal recessive.

Ear-palatine-finger syndrome. Growth retardation. Violation of psychomotor development and development of speech. Protruding forehead. Hypertelorism. Anti-Mongoloid eye section. Small nose and mouth. Cleft palate. Conducted deafness. Widely spaced toes. Restriction of movements in the elbow joints due to subluxation of the head of the beam.

Rg - hypoplasia facial bones.

Type of inheritance: recessive, X-linked.

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 trunk and shortened limbs. Polydactyly. Hypoplasia of teeth, 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 lesion musculoskeletal system. This differential diagnostic group includes those who have clearly expressed growth disorders.

Gurler 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 features. Hypertelorism. Epicant. Wide nose with a flattened bridge and turned-out nostrils. Big and thick lips. Often open mouth big tongue. Small, widely spaced teeth. Chronic rhinitis. A sharp lag in growth. Short neck. Kyphosis with a hump in the lower thoracic and upper lumbar regions. Big belly. Hepatosplenomegaly. Wide brushes with short fingers. Flexion contractures. Mental retardation. Inguinal and umbilical hernia. Hirsutism. Clouding of the cornea. Deafness.

Rg - cuboidal vertebral bodies. Kyphosis. Thickening of the clavicles, shoulder blades. Deformation pelvic ring. Flattening, reduction of femoral heads. Delay in the formation of ossification nuclei. Pronounced 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 a deficiency of iduronate sulfatase. Clinical signs appear at 2-4 years of age. Growth retardation. Moderate bone deformities. Rough features. Hypertelorism. Flat bridge with big nostrils. Thick lips. Macroglossia. Widely spaced teeth. Short neck. There are joint contractures. Deafness. Mental retardation. Hepatosplenomegaly. Hernia of the abdomen. Hypertrichosis.

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

Morquio syndrome. Caused by a deficiency of the enzyme chondroitin-6-sulfate-N-acetylglucosamine-4-sulfate-sulfatase. Clinical symptoms manifests itself at 1-3 years of age. Growth retardation. Significant skeletal deformities, especially of 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 shins and feet. Intelligence is normal. Clouding of the cornea. Hearing loss. Tendency to colds. Hernias. Hepatomegaly. Cardiopathies (sometimes).

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

Maroto-Lami Syndrome. It is caused by a defect in the enzyme arylsulfatase. First Clinical signs appear at 1-3 years of age. A sharp lag in growth. Macrocephaly. Rough face. Hypertelorism. Big nose, thick lips. Macroglossia. Short neck. Barrel chest. Kyphosis (sometimes). Flexion contractures in the joints. Valgus deformity of the legs. Clouding of the cornea up to blindness. Deafness (sometimes). Inguinal, umbilical hernias. Hepatosplenomegaly. Intelligence is unchanged.

Rg - deformation of the pelvic ring. Thinning of the neck of the thighs. Rounded 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 a sharp lag in growth with a proportional shape of the skeleton

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

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

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

Laron's disease. Patients had clinical signs of growth hormone deficiency at elevated level this hormone in serum. In this case, apparently, the formation of somatomedin in the liver suffers.

Cornelia de Lange syndrome. A sharp lag in growth. Brachycephaly. Microcephaly. Dense, fused eyebrows, long eyelashes. Hirsutism. Hypertelorism.

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

Rg - cone-shaped epiphyses, head hypoplasia radius, horizontal arrangement ribs. Frequency among newborns: 1:30.000-1:50.000. Type of inheritance: not clear, possibly polygenic inheritance. Most cases in pedigrees are sporadic.

Seckel's syndrome. Prenatal growth deficiency. Microcephaly. Narrow face. low position ears. Nose in the form of a bird's beak. Micrognathia. Hard hair. Keeled chest. Scoliosis, kyphosis. Clinodactyly. Subluxation hip joints. Mental retardation, negativism, tearfulness. Malformations of the kidneys, liver, genital organs. Hypergammaglobulinemia. Hyperaminoaciduria. Transverse furrow on the palm.

Rg - finger impressions on the skull, small Turkish saddle. Hypoplasia of the radius and fibula.

Russell-Silver Syndrome. Prenatal growth deficit, in the future - its sharp lag. A small, triangular face with the corners of the mouth down. Hypoplasia of the lower jaw. Late closure of fontanelles and teething. Body asymmetry - hemihypertrophy or asymmetry in the length of the limbs. Clinodactyly. Brachydactyly. Scoliosis, due to the asymmetry of the trunk. On the skin spots of the color "coffee with milk". Precocious puberty.

Dubovich syndrome. Prenatal growth deficit followed by stunting. Microcephaly. high forehead, wide nose With flat bridge of the nose. Facial asymmetry (sometimes). Hypertelorism. Blepharophimosis. Ptosis. Micrognathia. Ears low. Hard 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. Low rise. Microcephaly. Hypertelorism. Protruding forehead. Ptosis. Strabismus. Long eyelashes. High palate. Beaked nose. Micrognathia. Anomalies of bite and position of teeth. Ears low. Mental retardation. Broad terminal phalanges thumbs hands and feet. Brachydactyly. Polydactyly. Clinodactyly. Scoliosis. Joint hypermobility. Cryptorchidism. Cataract, hypermetropia, optic nerve atrophy (sometimes). Various vices internal organs. Transverse furrow on the palm.

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

Type of inheritance: not clear. Most cases are sporadic.

Leprechuanism. Children are often born prematurely. There was a delay in height and weight. Microcephaly. Hypertelorism. Large, low, protruding ears. Grotesque facial features. Flat nose with wide nostrils. Large mouth with thick lips. Exophthalmos. Big hands, feet. Delayed psychomotor development. Cryptorchidism. Enlargement of the labia, clitoris. umbilical, inguinal hernia. Folding of the skin. 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 with subsequent delay. Microcephaly. Short snub nose. Increasing the distance between the nose and upper lip. Micrognathia. Cleft palate or uvula. Strabismus. Ears low. Short neck. Syndactyly (skin). Brachydactyly. Mental retardation. pyloric stenosis, early childhood vomiting is noted. Hypospadias, cryptorchidism. Transverse furrow on the palm. Heart defects (sometimes). Hernias (sometimes). Type of inheritance: autosomal recessive.

Noonan syndrome. Growth retardation. Broad forehead. Hypertelorism. Ptosis. Epicant. Sad expression. High palate. Anomalies of the teeth. Splitting of the tongue. Ears low. Hard hair. Low hair growth at the back of the head. Kyphoscoliosis. Clinodactyly. Autism. Pterygoid fold on the neck. Delay 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 growth retardation, mainly from the second year of life. Obesity. Delay secondary sexual characteristics. Delay in the formation of ossification nuclei. The mode of inheritance is not clear.

Familial osteopetrosis. growth disorder. Macrocephaly. Protruding forehead. Ptosis. Strabismus. Dental anomalies, 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 breasts is often physiological. In order to understand when you should immediately go to the doctor with such a problem, and in which case you should not worry, you need to understand why this happens.

What is the norm?

In an adult, the axes of the eyes normally completely coincide. Deviation from this is called strabismus, or strabismus. There is another clinical name - heterotropia. There are two main types of strabismus:

convergent. In this case, one or two eyes are beveled to the bridge of the nose. In infants, this type is observed (in 90% of cases).
Divergent. One or both eyes move to the temple.

As a result of the fact that a newborn baby often has weakness oculomotor muscles, for this reason, heterotropia develops.

He is not always able to control movement at birth eyeballs. It is important for parents to know when this phenomenon passes, since such a process cannot be started.

Eye divergence persists only in 9% of seven-year-old children of the total number of babies with strabismus. Over time, the muscles of the eyes become stronger, and nothing reminds that the baby had strabismus.

The structural features of the bones of the skull and the wide bridge of the nose also lead to the fact that the child has some deviation. It goes away in a few months.

Causes of pathological strabismus

But there are a number of cases in which normalization does not occur. The causes of this pathology can be:

birth complications;
lack of oxygen during fetal development;
infection and intoxication of the fetus;
transferred measles, scarlet fever or influenza;
neurological abnormalities;
hereditary predisposition;
improper placement of toys above the bed.

Psycho-emotional stress (screaming, bright light, etc.) can lead to the temporary appearance of strabismus in a newborn.

If strobism is observed for more than six months, then it leads to impaired visual acuity and the development of amblyopia.

When to go to the doctor?

Despite the fact that strabismus can disappear in a month after birth, or after three, it is normal in six month old baby such a 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:

according to the time of appearance - congenital or acquired;
permanent and temporary;
unilateral or intermittent;
convergent, divergent and vertical.

Separately, it is necessary to highlight the paralytic type, in which the eye does not move in a certain direction as a result of damage to the muscle or nerve.

How to prevent illness?

In order for strobism not to cause vision loss, there is prevention of strabismus in infants.

If a baby at the age of one month has strabismus, then the following must be done:

Hang bright toys over the center of the crib at a distance at which the baby could not reach them with a pen.
Toys should only be large.
Do exercises to strengthen the muscles of the eyes. To this end, you need to take a large and bright rattle and drive it from side to side so that the baby follows it with his eyes.
At the age of two months, undergo a scheduled examination by a specialist and follow all his recommendations.

Treatment

There are currently 25 types of strabismus. For this reason, only a specialist should deal with its treatment. In each case, only an individual approach is applied.

You should not start such a disease, because gradually vision can drop sharply.

Once diagnosed, treatment is as follows:

Until all symptoms are completely eliminated, the child is selected for correction glasses or soft lenses.
To improve the functioning of the affected eye, the occlusion method is used. It consists in closing for a while healthy eye, force to work sick.
A variety of techniques are used to restore binocular vision.
If the child is four years old, then complex treatment used orthopedic and acupuncture.

Upon detection paralytic form strobism necessarily need to consult a pediatric neurologist!

If it doesn't work, your doctor may recommend surgery. It is held under general anesthesia. After that, the child undergoes rehabilitation and strengthens eye muscles with specific exercises.

The presence of strabismus in a newly born baby is not a cause for panic; for the first few months of his life, he cannot focus his eyes.

But in most cases, by 4-6 months, this phenomenon disappears without a trace. Proper Prevention help to avoid the transition of physiological strabismus into pathology.