The face develops as a result of the fusion of various processes. In reality, however, complete unification of the processes does not occur - in the area of their confluence, the mesenchyme of one process is separated from the mesenchyme of the other by a groove - a zone containing a small number of cells. In the course of development, these grooves are smoothed out, due to which the final configuration of the face is formed. In connection with the formation of the face and oral cavity from various structures merging with each other, a number of maxillofacial anomalies may arise, the cause of which lies in the disruption of the processes of normal fusion of processes.
Slots faces are divided into front and rear... The recognition point is incisal hole. Front slits include: lateral lip slit, slit upper jaw and the gap between the primary and secondary palate. Rear slits include: cleft of the secondary palate and uvula gap. The front slits of the face, in turn, are divided into straight and oblique.
Among these malformations, the most common is congenital cleft lip - the so-called cleft lip(frequency 0.1-0.14% is somewhat more common in boys). It occurs due to a violation of the fusion of the middle nasal process with the maxillary. Cleft lip is usually unilateral(80% of all cleft lips), less often - bilateral... Even less often, this anomaly is combined with gaping eye-nasal fissure. Can also be combined with holoproencephaly. With non-union of the palatine processes, a congenital defect occurs, called cleft palate(frequency 0.04% in girls is more common than in boys), in which there is a cleft of hard and soft palate of various lengths. With a median cleft lip, the defect occurs as a result of a violation of the fusion of the medial nasal processes.
These malformations cause nutritional and respiratory disorders in the child and require surgical treatment.
The causes of a cleft palate, like a cleft lip, are associated with many factors. These defects often develop with some chromosomal abnormalities, their occurrence is described under the influence of teratogenic drugs ( anticonvulsants, phenobarbital and diphenylhydatoin), infectious diseases, radiation, hormones. The critical period of action of harmful factors causing malformations of the maxillofacial region corresponds to the time of the greatest activity of the processes of formation of facial structures (4-8 weeks).
The mechanisms of formation of clefts in the area of the face and palate are not the same. Clefts of the lip and anterior sections of the upper jaw occur as a result of impaired development of the primary palate of the embryo. Often, when such clefts occur, the palatine processes are unable to come into contact when moving to a horizontal position. In this case, the crevices of the secondary are attached to the cleft of the primary palate. Facial clefts usually develop due to defects in the mesenchyme of the facial area, which are caused by impaired migration of neural crest cells or proliferation of mesenchymal cells. With the development of a cleft palate in the absence of clefts of the face, the mechanisms differ from those indicated. They include:
- violation of the fusion of the palatine processes due to insufficient growth or lack of their transition to a horizontal position;
- inability of the palatine processes to merge with each other after establishing contact due to the lack of destruction of the epithelium;
- disconnection after primary merge;
- defective fusion of the mesenchyme of the processes.
Macrostomy, or transverse facial cleft, arises as a result of non-union of the maxillary and mandibular processes in their lateral areas, which leads to the formation of an unusually large mouth gap.
Microstomy is the result of excessive fusion of the lateral zones of the maxillary and mandibular processes.
Page 6 of 30
FACE IN PATHOLOGY
L. M. Sukharevsky
Since ancient times, general attention has been attracted not only by a healthy person, but also by a sick person, not only by his norm, but also by pathology. It has long been known that bodily and mental elements are mutually intertwined and projected on the screen of the face of a reasonable person, reflecting the norm and pathology of the face. And in this pathology, normal facial expressions are distorted, deformed, and the harmonious synthesis of the usual mimic game undergoes various changes depending on the nature and nature of the disease process.
From the era ancient greece it has come down to this day famous description the face of a dying person, the so-called "Hippocratic face", which has retained its full authenticity to this day.
It is a deathly pale face, covered with cold sweat, gleaming with an ominous blue. Weakened eye muscles do not sufficiently fix the eyeballs, and the latter sink into the orbital cavities of the skull. During the drowsy state of the dying person, weakened eyelids do not completely cover the eyeballs, as a result of which a white stripe of sclera is exposed. The nose becomes thinner and its pointed tip protrudes sharply, the wings of the nose flatten, the cheeks fall in, the lips become thinner, become anemic, become covered with cracks and caked crusts, and the lower jaw drops down, opening a half-open mouth.
The number of wrinkles in the dying person increases, and they become more pronounced, deeper and larger in size. The mimic play is sharply poorer. Mimicry becomes simpler, becomes superficial, monotonous, dull, reflecting the onset of the body's weakness and the approach of its fatal outcome, its end.
It is known that every doctor, when meeting with a patient, pays attention to the expression on his face, to the pathology of the latter. He pays attention to the tissues of the face, to the state of his mimic expression, notes the observed here pathological signs facial expressions. Often, by one expression of the patient's face, an experienced doctor makes a presumptive diagnosis, which is often later confirmed by the most modern and sophisticated clinical and laboratory studies. According to the state of the face, changes in its dynamics, one can judge the course of the disease and the effectiveness of the treatment (of course, along with other criteria).
The famous clinician E. Klemperer attached great importance to the normal facial expression as a factor of somatic usefulness. He put forward the concept of a healthy facial expression and a lively, normal, usual for every person, facial expressions ("harmonious face"), in contrast to the sedentary, adynamic, fading, agonizing face of a dying person ("disharmonious face").
The expression on the face of a cholera patient ("cholera face") has been well studied. With it, there is a significant pallor of the skin, their pronounced weight loss, the weakness of the patient's mimic activity striking the eye of the observer. Experienced doctors are quite familiar with the face of a febrile patient ("febrile face"): an emaciated expression, caked crusts on the lips, a restless wandering gaze.
With Gravesism, there is a frequent change in the color of the skin (paleness and redness of the face), due to vasomotor shifts. The skin is usually damp, sweaty, and often shiny. The face expresses a state of "prolonged anxiety". It is characterized by wide-open, protruding eyes with relatively rare blinking and low gaze mobility. Disturbance of gaze and lagging of the upper eyelid when lowering the eye downward further emphasize mimic disorders.
The pathology of the face with myxedema is so expressive that it is usually possible to accurately diagnose his disease from one external appearance of the patient. The skin of the face thickens, the subcutaneous tissue is swollen and edematous, significant bags under the eyes, raised puffy lips, a sharply wrinkled forehead, smoothed nasolabial folds, a change in the shape and color of the nose, a protruding enlarged tongue between the lips - all this gives the somatic basis of the patient's face myxedema is an unforgettable, characteristic, specific look. Against this background, a sluggish, indifferent mimic manifestation appears, dull, impoverished, monotonous, often devoid of meaning.
With congenital myxedema, the corresponding changes in bone growth (dwarf growth, etc.) cause architectonic deformations of the cranial and facial skeleton, which in turn is also reflected in the overall picture of facial pathology.
The literature colorfully describes the state of the face of a tuberculosis patient in the last stage of his disease. Significant exhaustion, painful facial expression, pallor of the skin and contrasting bright crimson "roses" on the patient's cheeks are striking.
Unforgettable, the so-called "cachectic face" at malignant tumors, for example, with rapidly growing carcinoma. The face seems to be sharply emaciated, thinner, the facial features are sunken, and against this background the cheekbones stand out. The skin of the face is dirty gray, pale, often with a shade of yellow, flabby, wrinkled. On such a diminished face, impressively wide-open eyes with frozen sorrow of suffering experiences.
Extreme poverty of mimic expressiveness is specific for the “face of an idiot”.
The face with acromegaly is characterized by an irregular growth of certain parts of the face. At the same time, the color of the skin also changes. "Facial hypertrophy" is clearly visible. Clinicians have given a special name and specificity of acromegalic mimicry: "clumsy, animal-like expression."
Many specific names are known that characterize changes in the face in pathology: "monoplegic face", "microcephalus face", "scleroderma mask" in scleroderma, "tetanus face" with a characteristic "sardonic laugh" in tetanus, "specific face in a brain tumor", etc. ...
In a word, various states of the face are found in many sufferings - somatic and mental, when mimic functions are impaired, which vary widely on the way from norm to pathology. As you know, facial expressions are included in the group of so-called expressive movements. Anatomical and physiological mechanisms of expressive movements are embedded in the cortex and subcortical nodes. The same mechanisms, only pathologically altered, underlie the group of deformed expressive movements, which are referred to as mimic disorders.
For the qualitative characteristics of human mimic activity, the distinctness of movements is of great importance, due to the clarity of the pyramidal innervation. The components of the proportionality of movements and their coordination are important. In the implementation of the latter, a significant role belongs to the extrapyramidal system.
From the point of view of an in-depth study of facial expressions in health and disease, it seems appropriate to carry out a differential analysis of individual facial ensembles. At the same time, the facial expressions of the upper half of the face and the facial expressions of the lower half of the face differ. An analysis of the participation in the mimicry of the muscles of the eyes and mouth, the mimic dissociation of which has diagnostic and prognostic significance, is also carried out. Fractional differentiation of the components of facial expressions is derived from the peculiarities of the expression of their facial expressions. It is not difficult to trace this on the facial expressions associated with the gaze. The size of the palpebral fissure is determined by the degree of muscle contraction, the nature of their innervation. The stronger the muscle that lifts is innervated upper eyelid, the more actively it is pulled up and the wider the palpebral fissure protrudes. And, conversely, with increased innervation of the circular muscle of the eye, the palpebral fissure narrows more and more, until it is completely closed. The nature of the opening of the palpebral fissure and the corresponding degree of exposure of the eyeball are of diagnostic value.
In the pathology of the face, there are paresis of the muscle that lifts the upper eyelid, in which the eyes and the entire face of the patient as a whole acquire a characteristic tired, sleepy expression. Mimic pictures are known due to an increase in innervation impulses, in which the upper eyelid rises sharply and exposes eyeball, forming "exophthalmus" - a well-studied symptom of Graves' disease.
Symptoms of narrowing of the palpebral fissure are also of diagnostic interest. Normally, this phenomenon occurs with the phenomena of significant fatigue, in which, due to a decrease in tone, the muscle that lifts the upper eyelid is weakened. Mimically, this position of the drooping eyelid is manifested in expressions of fatigue, lethargy, indifference.
Interesting mimic changes in the palpebral fissure, caused voluntarily. For example, we often narrow the palpebral fissure and squint our eyes to better see the object that attracts our attention. In other cases, the voluntarily induced shift of the normally open palpebral fissure has a protective, defensive character with the dominant goal of protecting the eyeball from impending danger. This is the physiological meaning of the crying mechanism.
The vertical movement of the eye has a known diagnostic value: from top to bottom and back. A sullen look is often observed in the clinic. mental illness and testifies to the so-called negativism of the patient, his hostility and alienation.
In normal conditions, a calm, confident gaze is common, when the direction of the gaze gradually moves from one object to another. In pathological conditions, slow gaze, sometimes jerky (epidemic encephalitis), restless wandering gaze (manic-depressive psychosis), slowly stretching gaze (when leaving the post-seizure state in epileptics), completely frozen immobile gaze (with catatonic stupor), etc., are more common. etc.
The etiology of mimic disorders is varied. Their most severe manifestations are observed with a disease facial nerve... Here infections are more common, less often injuries and colds. Mimic play in diseases of the facial nerve (paresis, paralysis) becomes poor, often asymmetric, deformed, rough. Its delicate filigree manifestation falls out, the transitions between mimic formulas are made more intermittently.
Mimic disorders in acute inflammations pia mater (meningitis). They are manifested in a general tense facial expression, contracture of the facial muscle groups (eye, chewing, etc.), shiny, motionless eyes, increased forehead wrinkles, tightly clenched teeth. Sometimes there are mono- and hemiplegic convulsions, including facial muscles, and peculiar motor stereotypes, in the form of teeth grinding, sucking, etc.
An increase in painful symptoms leads to loss of consciousness, accompanied by a sharp decrease in facial functions, sometimes reaching complete akinesia of the facial muscles, which gives the face a characteristic frozen expression.
A further increase in meningeal phenomena already leads to nested lesions of the cortical order with a corresponding focal localization, which is reflected in additional partial mimic disorders of the local topic: paralysis of the facial and oculomotor nerves, the phenomenon of aphasia, etc.
Along with meningitis, encephalitis (acute and chronic) also lead to significant mimic disorders that cause facial pathology. General symptomatology of acute encephalitis ( elevated temperature, headaches, etc.) in combination with the observed psychotic states of patients gives mimic activity a peculiar character of excitement, confusion, often with pronounced phenomena of psychomotor anxiety.
The relevance of the analytical stratification of the structural elements of the pathology of a lead in each individual case is explained by the fact that when perceiving painfully altered facial expressions, some components are usually layered on others and thus often obscure the true nature of the pathology of the face.
So, with the phenomena of congenital asymmetry of the facial skeleton, asymmetric components of the secondary order caused by the features of the facial skeleton can be projected in the mimic activity normal for a given person. Therefore, when starting to study the face, it is necessary from the very beginning to carefully examine the cranial and facial skeleton in order to take into account their constitutional features in advance and eliminate them from the general picture of facial pathology in each individual case.
It is clear that in this case one should take into account the general type of the patient's body structure and the external data of the person correlated with it. The observed differences between the recognized constitutions of the asthenic, athletic, picnic, dysplastic and infantile-gracial type affect, of course, to some extent (albeit a minor one) and the general expression of a person's face both in normal conditions and, naturally, in pathology. That is why they should be taken into account for structural analysis purposes.
It is also important to remember about the so-called motor-constitutional components, since there are correlations between the constitution and human motor skills.
There are observations indicating that the pathology of the face, as well as its norm, also reflects the data of the ontogenetic development of the individual. This is understandable, because as a person develops, he accumulates life experience, he establishes social interaction with the environment, and his social consciousness is formed. During this entire period, its mimic functions also undergo a complex evolution. That is why for the pathology of the face it is far from indifferent at what life stage of the development of the personality its mimic functions will be affected. Taking into account the age correlation when studying the specific nature of mimic disorders is required.
Studying violations of mimic functions, their participation in the formation of facial pathology in various diseases, at different age stages, one can see how one and the same pathological process determines the variational fluctuations of painful and mimic structures depending on age and partly gender. In particular, pathophysiological factors in senile age (metabolic disorders, weakening of biotonus and any other pathological changes associated with it) more sharply affect the deformation of the face.
Destructive pathological processes destroy the phylogenetic anatomical and physiological base and thereby cause more or less damage to the ontogenetic experience. The problem of the influence of ontogenetic development on mimic functions was studied by a number of authors who were interested in the question of how dynamically congenital constitutional features are reflected in the structure of mimic activity and to what extent they intersect, combine and are interdependent with the data of accumulated ontogenetic experience. As a result, these researchers came to the conclusion that professional occupations, homogeneous in their specifics, based on a long period of time, and of the same type in their manifestations, in some cases form more or less similar “professional facial expressions”.
As a rule, the accumulated ontogenetic components of mimic structures are unstable, they disintegrate and dissolve under the influence of a manifesting pathological factor, and this can be traced, for example, in the clinic of progressive paralysis.
Defects of individual sense organs, in turn, leave a painful imprint on the overall picture of facial pathology. The face of the blind with a characteristic smoothed frontal mimicry has been well studied. With myopia, there is usually a confused expression on the face and an uncertain look. Often, visual defects are compensated for by a special head position: raised, tilted to one side, somewhat lowered, etc.
Deafness gives the face an expression of alertness and tension when listening and observing the moving lips of the interlocutor. Earlier graying also indirectly participates, along with other signs, in the formation of altered facial pictures, imposing an age imprint on the last. The so-called bad habits or "mimic anomalies", such as biting the lower lip, the tip of the mustache, etc., give some originality to the structure of the pathology of the face.
As a rule, in the structure of pathological facial pictures, one should take into account the "mimic phenomenon of flickering organic matter" - its improvement and deterioration due to the dynamic course of the disease.
Neuropathologists and psychiatrists more often than other specialists meet with the dysmimic form of "hemomimia". Its anatomophysiological substrate consists in the defeat of the thalamus. Clinically, it manifests itself in the fact that the side of the face, which is of the same name, the affected part of the visual hillock, loses the ability to mimic activity during affective experiences. The interest of this mimic phenomenon is aggravated by the fact that the ability for voluntary movements of this part of the face is preserved. Do not forget that there are other cases of hemomimias that occur without affecting the optic hillock. Then the voluntary mimic activity of the affected part of the facial figure is also disrupted.
The form of weakened mimic activity is called "hypomimia". Its anatomical and physiological substrate is the weakening of the innervation associated with the tone of the facial muscles. It is found in a number of diseases of the central nervous system. It should be considered symptomatically common in the depressive clinic.
Its dynamic opposite should be considered increased mimic activity, called "hyperimia". Its anatomical and physiological substrate lies in the processes of excitation of the central nervous system. Clinically, it manifests itself in an abundant, stormy mimic play with a wide variety of mimic transformations and nuances. In the most pronounced degree they are found in manic states of circular psychosis, they are not uncommon in the clinic of schizophrenia and progressive paralysis.
With an inadequate correlation of mimic play with mental experiences, one speaks of "paramimias". The most vivid paramimic pictures are when patients laugh at the same time while crying. Such a patient, smiling, can tell the doctor about the incredibly heavy sadness that oppresses him, torments and haunts him for a minute. The anatomophysiological substrate of paramymias is extremely complex and, apparently, mainly consists in the phenomena of dissociation of cortical and subcortical activity.
The imitative form of dysmimia is curious - the so-called "echo-mia". Its anatomical and physiological substrate, apparently, lies in a decrease in cortical activity. Psychological - in increased suggestibility. It occurs with oligophrenia and schizophrenia.
The time has come to start creating in the clinic of mimic disorders the doctrine of the "mimic syndrome" from a new angle of view and to study it as the "foreground" of the disease, as its organic exponent. The complex structure of mimic pathology requires a multifaceted analysis, and, first of all, a syndromological understanding. Along with other manifestations of the structural formation of painful disorders of the human face, the syndrome of mimic disorders is an integral component of the overall mosaic of the clinical picture of suffering.
Only in a general context with the entire picture of the disease, the study of mimic disorders as a syndromological phenomenon can provide the valuable theoretical and practical data that mimic syndromes have. Such a study of mimic changes as an integral part of a single whole - the clinical picture and as a combination of a number of mimic symptoms that form the syndrome is fruitful. It is practically important to see in each individual case the origin of the syndrome with the aim of in-depth knowledge of its etiological roots, their formation, in initial stage and in dynamics as the disease progresses.
The genesis of certain mimic syndromes is determined by a number of causal factors endogenous and exogenous. There is a long dynamic path of development from the initial, barely noticeable form of identifying the mimic syndrome to its growth to full height. It is important to trace the ways of identifying and developing mimic syndromes. At first, they represent a barely noticeable, almost not pronounced microsymptomatology, manifested by very weak dysmimic signs. Its manifestations can be very diverse both in the direction of "plus", that is, strengthening of the existing mimic activity, and "minus" - in the sense of its reduction and oppression. As an example, one can point to a little noticeable mimic "revival" in the initial stage of the growth of a manic state or to a mimic "impoverishment" in the gradual manifestation of depressive states.
It is important to emphasize that in many cases microscopic mimic dysfunctions are one of the first dynamic manifestations of incipient mimic syndromes. And further, as the general pathological symptoms increase, an intensifying development of dysmimic syndromology is observed. Basically, it consists, on the one hand, in an ever-deepening dysfunction of mimic activity, and on the other, in an increase in its pathological symptoms.
The dynamics of violations of facial expressions should be studied at all stages of their manifestations: a) in the initial state, b) at the height of the development of the disease, c) in the initial states.
Such an approach to cognition of the Dysmimium clinic allows us to establish the leading tendencies pathological process, and its rate - the intensity of the course of a specific painful form.
In recent years, there has been widespread adoption of the latest technology into the theory and practice of medicine. Electronics is put into service. Computing devices are involved. Cybernetic machines have been installed in a number of medical institutions. They are used in various directions, in particular, in the diagnosis and in deciphering the diagnosis of unclear and difficult cases of the disease.
Considering the possibility of using electronic technology in the near future for a more in-depth study of facial pathology, I would like to be an optimist. For example, criminologists, based on their specific tasks are already thinking about it.
As an illustration, we quote the following statement: “Forensic scientists are well aware that some individual proportions of each human face practically do not change throughout life. A photovoltaic device equipped with a computer could easily determine these proportions and thus identify people by their appearance. "
Such a formulation of the question is of little interest to physicians. But here the possibility of programming the most common and typical clinical pictures of facial pathology deserves attention so that, along with other diagnostic programs, dysmimic indicators would be included in cybernetic devices, and thus information about the disease would also be issued on the pathology of the face.
But this is a matter for the future. Now, for the time being, it would be nice if in medical institutions it was possible to establish systematic photographing of patients with the most interesting clinical pictures pathology of the face. We are talking about the introduction of photocineographic techniques in the scientific and practical activities of medical institutions.
This technique is used with great success to study the clinic of dysmimia, to study the pathology of the face. Photography captures facial expressions in statics, and cinematography - in dynamics. Technically, the shots are taken for the most part close-up. Usually, frontal and profile photographs of the face are made. In necessary cases (the lack of clarity of the disease, the complexity of its recognition, etc.), multiple photographs of the most diverse mimic variations in the same patient are performed; A whole series of images is processed. Thanks to this, visual documentary material is accumulated, correlated with the data of the medical history and reflecting the dynamics of the manifestation of dysmyemias. Where it is possible, it is advisable to attach premorbid photographs of the patient to compare the norm with the emerging pathology.
Premaxillary agenesis is a severe defect, which is based on gross disorders in the development of the brain of the arinencephalic group (arinencephalic abnormality). Outwardly, it is manifested by a cleft lip and palate, a spread nose, hypotelorism and a Mongoloid incision of the palpebral fissures. Disorders of the structure of the face are associated with hypoplasia and aplasia of the ethmoid bone, bone and cartilaginous parts of the nose, as well as the palatine process of the jaw.
Anomalous median cleft of the face (forces: frontonasal dysplasia, nasal cleft, double nose, dirinia, split nose, "mastiff nose") is a complete or skin-covered longitudinal defect of the nasal dorsum, sometimes passing to the alveolar ridge and forehead (Fig. 25). The defect is accompanied by hypertelorism, a wide root of the nose and, in some cases, anterior cerebral hernia. There are 3 degrees of median cleft:
where Fig. 25. Anomalies of the development of the face (Kupriyanov V.V., Stovichek G.V., 1988): a forked nose; b - underdeveloped lower jaw, dystopia of the auricle; c - non-union of the rudiments of the lower jaw; d - button-shaped nose without nostrils; e - tubular nose under a single underdeveloped eye; e - cyclopia, tubular nose
I - hidden cleft (the tip of the nose is bifurcated), II - open cleft of the tip and back of the nose, III - total cleft of soft tissues and osteochondral parts of the nose with deformation of the orbits. Often, with such forms, the wings of the nose are absent. Sometimes there is a complete doubling of the nose. In a number of cases, there are brachycephaly, microphthalmia, epicanthus, colobomas of the eyelids, congenital cataracts, prsauricular skin outgrowths, low auricles, sometimes conductive deafness, clinodactyly, campto-
dactyly, cryptorchidism, lipomas and dermoids. Combinations of frontonasal dysplasia with hydrocephalus, arineencephaly and microgyria, agenesis of the corpus callosum, craniosynostosis are noted. In 20% of cases, mental retardation is observed moderate... The population frequency of severe forms is from 1: 80,000 to 1: 100,000.
Anomalies in the shape of the nose (Fig. 26):
a) wide nasal bridge with sunken nose;
b) protruding nose bridge;
c) an upturned nose with twisted nostrils;
d) fleshy tip of the nose;
e) hooked nose;
f) button-shaped nose;
g) proboscis nose. 
a B C
Aprosomia is the absence of a face as a result of a stop in the development of facial anlages. Only individual nodes are noted on the surface of the face.
Arinia - the complete absence of the external nose.
Acephaly is a congenital complete absence of the head. May be combined with absence upper limbs(acephalobrachia), stomach (acephalogastria), heart (acephalocardia), lower limbs(acephalopodia), spinal column (acephalorachia), chest(acephalotoration).
Curvature of the nasal septum is a common defect that develops when the vault and floor of the mouth lag behind in growth.
Facial cyst is a tumor-like formation of congenital origin that occurs in the places of bone sutures on the face. Its origin is associated with the growth in the depth of the tissues of the ectoderm, which was detached in the embryonic period. Distinguish between dermoid and epidermal cysts. The most typical localization is the bridge of the nose, the border of the bony and cartilaginous parts of the nose, the outer edge of the orbit. 
The dermoid nasal cyst is located on the dorsum of the nose, formed as a result of non-closure of the embryonic fissures. It is mainly localized under the skin at the junction of the nasal bones with cartilage.
Coloboma of the wing of the nose is a transverse, shallow one- or two-sided slit of the free edge of the wing of the nose. It often accompanies complex facial defects.
"Bird's face" - a face with a chin sloping and sinking back in case of underdevelopment of the lower jaw and Ankylosis of the temporomandibular joint. It is observed in Franceschetti-Tsvalen syndrome (Fig. 27).
"Fish face" - a face with a sharply narrowed mouth opening. Observed in Franceschetti-Zvalen syndrome.
("Bird's face") (Kupriyanov V.V., Meloshiz - a cleft cheek with an increase in the size of the mouth.
StovichekG. V., 1988)
Microforms of clefts of the upper lip and palate - in addition to the pronounced forms of clefts mentioned above, there are also small signs called microforms. This includes a latent or obvious cleft of only the tongue, diastema, latent and initial cleft of the red border of the lips, deformity of the wing of the nose without the presence of a cleft lip.
Accessory nose (syn.: Proboscis, proboscis) - in mild cases, it is an outgrowth in the form of a tube located at the root of the nose. In severe cases, instead of a nose, there is a tubular leathery formation with one blindly ending hole.
Absence of nasal septum - it can be complete or partial. It is rare.
The absence of half of the nose is congenital - aplasia of the wing and lateral surface of the nose within the cartilaginous part, usually accompanied by atresia of the bony opening leading to the nasal cavity from the same side. The remaining half of the nose is hypoplastic.
Congenital perforation of the nasal septum - an opening in the bony or cartilaginous part of the nasal septum.
The cut of the eyes is antimongoloid - the outer corners of the palpebral fissures are lowered. It is found in many malformations syndromes.
Cleft of the upper lip (syn.: Non-closure of the upper lip, cheiloschis, "hare lip") - a gap in soft tissues lips passing from the side of the filter room. It can be unilateral and bilateral, complete or partial, subcutaneous or submucosal.
The cleft of the upper lip and palate is through (syn: heylognatopachatoschiz) - the cleft of the lip, alveolar ridge and palate. It can be one- and two-sided. With through clefts there is a wide communication between the cavities of the nose and mouth (Fig. 28). It can be combined with polydactyly and anomalies of the genitourinary apparatus (Grauhana syndrome).
Rice. 28. Cleft upper lip (Kupriyanov V. V., Stovichek G. V., 1988): a - unilateral partial cleft of the upper lip; b - unilateral complete cleft of the upper lip; c - bilateral complete cleft of the upper lip
The cleft of the upper lip is median (syn: the cleft of the upper lip is negligible) - a gap in the soft tissues of the upper lip, located along the midline. Accompanied by a bridle and diastema; can be combined with a cleft of the alveolar ridge and a doubled bridle. The anomaly is very rare (Fig. 29, 31).
Rice. 29. Defects in the development of the face along the lines of fusion of its parts (Patten B. M., 1959):
a - median cleft of the upper lip; b - the median cleft of the lower jaw; c - bilateral cleft of the upper lip and microcephaly; d - bilateral cleft of the upper lip, mid-nasal components are located at the tip of the nose; e - open orbital-nasal fissure and complete absence of the medial part of the upper lip and jaw; f - open orbital-nasal fissure in combination with nonunion of the upper lip
Rice. 31. Non-union of the upper lip in combination with a defect in the palate ("cleft lip" and "cleft palate")
(Kupriyanov V.V., Stovichek G.V., 1988): a - on the one hand; b - on both sides; 1 - the median nasal process;
2 - maxillary process; 3 - nasal septum; 4 - palatine protrusion
Oblique facial cleft (synonym: paranasal cleft, lateral cleft, oblique coloboma) is a rare, usually unilateral malformation. Distinguish between nasal and orocular forms. Both forms in some cases extend to the forehead and temporal region, can be complete and incomplete. Oral clefts are found 2 times more often than nasal clefts and are often combined with other defects: clefts of the lip and palate, cerebral hernias, hydrocephalus, microphthalmos, deformities of the fingers and toes (Fig. 30, 32). 
Rice. 30. Facial development defects (Kupriyanov V. V., Stovichek G. V., 1988):
a - unilateral complete cleft of the upper lip; b - bilateral complete cleft of the upper lip; c - unilateral partial cleft of the upper lip; d - lip nonunion extends to the base of the nose; d - open orbital-nasal fissure; f - open orbital-nasal fissure in combination with nonunion of the upper lip
The median cleft of the lower lip and lower jaw is a very rare defect. There are partial and full forms. At full forms the alveolar process and the body of the lower jaw are connected by a connective tissue bridge. Both halves of the jaw are moderately mobile relative to each other. The tongue of the end section can be spliced with lower jaw... There are cases of simultaneous median cleft of the upper, lower lip and lower jaw. 
Dermoid nasal fistula - located on the dorsum of the nose, formed as a result of non-closure of embryonic fissures.
Sinofreeze - fused eyebrows.
Telecant - offset of the inner angles of the eye ^
Rice. 32. Bilateral orbital-oral fissure of the slits laterally with normally located- (Kupriyanov V.V., Stovichek G.V., 1988)
orbits.
Tricephaly - the presence of three facial surfaces on one head with a common torso.
Cebocephalus is an underdevelopment of the external nose up to its absence, combined with a reduced distance between the eyes, as a result of which the patient's face resembles a monkey's face. The volume of the skull is usually reduced. The fusion of both hemispheres of the brain is characteristic, the presence of one common ventricle. The olfactory nerves, corpus callosum, and septum are not developed.
Department of Pediatric Dentistry with a course of surgical
dentistry
Lecture: Congenital pathology of the face.
Classification, etiology, pathogenesis,
clinic, diagnostics. Timing and principles
complex treatment
Lecturer Tuleutaeva S.T. Lecture plan:
Statistics and classification
congenital anomalies of the maxillofacial region.
Etiology of congenital facial defects
and jaws
Pathogenesis of congenital facial defects and
jaws
Lateral cysts and fistulas of the branchial
origin
Median cysts and fistulas of the neck Statistics and classification of congenital
anomalies of the maxillofacial region.
Malformations mean gross changes
anatomical structure, accompanied by
persistent organ dysfunction or
system.According to WHO, congenital malformations
development occurs in 11.3% of the total
newborns, of which in surgical correlation
need from 1.5 to 3% of children (Yu. F. Isakov, S. Ya.
Doletsky, 1978). The urgency of this problem
is confirmed by the fact that among the general children's
mortality lethality from malformations
takes 3rd place; about ¼ of all newborns and
1/10 children who die in the first year of life die
from developmental defects.
Malformations, especially maxillofacial
areas are extremely diverse and difficult
lend themselves to systematization. Common malformations are
the following:
1.Congenital cysts and fistulas of the face
a) median
b) lateral
Median - a) cysts of the root of the tongue
b) cysts located above or below the hyoid
bone.
2. Anomalies of the frenum of the tongue.
3. Transverse and oblique cleft of the face.
4. Malformations of the nose - isolated malformations
hernia, etc.)
5. Pierre Robin's syndrome - underdevelopment of n / h,
tongue), cleft palate. 6. Chondrodystrophy - there is a lag in
the process of ossification of primary cartilaginous bones,
especially the base of the skull and associated with it / h,
which leads to the underdevelopment of the middle part of the face.
Impaired bone growth at the epiphyseal ends
leads to shortening of the limbs.
A kind of osteochondrodystrophy in the early
age is Pfaundler-Gunder disease
(gargoyism) when it is combined with mental
backwardness.
7. Various dysostoses.
maxillofacial
craniofacial (Cruson's disease)
cranioclavicular 8. Syndromes of the first and second branchial arches.
Various isolated and
combined deformities: underdevelopment
i / h, zygomatic bone, various anomalies
auricle, salivary glands, tongue,
soft palate and more severe.
Extremely rare types of deformities include:
a) Complete absence of a face (aprosopia)
b) Lack of the middle department of the military unit,
the intermaxillary bone along with the nose and everything
middle section of the face (cyclopia)
c) Congenital cleft in / h
d) Progressive hemiatrophy of the face and others. Congenital clefts of the maxillofacial region
are one of the common deformities
human and make up about 30% of all vices
development. It is generally accepted that, on average, 1000
newborns one child is born with
a cleft in the facial area, and more often it is
there is a cleft in the palate. However, a number of foreign
the authors give higher figures. For example,
in the United States, this frequency ranges from 1: 578 to 1: 750 by
T.F. Vinogradova, 1976 According to M.D. Dubov
(1960), among all the clefts of the ChLO cleft palate
make up 77.2%, cleft lip 22.8%. Most
a combination of lip malformation and
sky, accounting for about 60%. Annually
about 5 thousand children are born with cleft lips and
sky (Z.I. Chasovskaya, 1972). Etiology of congenital defects of the face and jaws.
Etiological factors of human deformities, incl. and CHLO,
are divided into exogenous and endogenous:
I. Exogenous causes
Physical factors.
a) Mechanical - increased pressure on the developing
fetus, multiple pregnancy, uterine malformations,
tumors of the uterus, narrowing of the pelvis. Teratogenic agent can
to appear a single injury to the mother in the early stages
pregnancy, abortion.
b) Thermal - the harmful effect of high
maternal temperature in human pathology, which can cause
metabolic disorders of the embryo (fever
accelerates, and lowering slows down development) or impact
temperature occurs through the endocrine and nervous
systems.
c) Radiation exposure - external exposure,
acting during critical periods of embryogenesis (by 3-6
week) on the mother's body in significant doses, naturally
causes a teratogenic effect. External exposure sometimes
causes a mutation in the germ cells of the father and mother, in
as a result of which the offspring may develop malformations
(examples of Mr. Hiroshima and Nagasaki in Japan). The same action
can cause internal exposure when radioactive
the substance enters the body. Chemical factors.
a) Hypoxia - teratogenic effect of deficiency
oxygen has been known for a long time (circulatory disorder in
mothers, local circulatory disorder due to
defective egg implantation, pathology of the placenta, and
diseases of the fetus itself).
Indomitable vomiting during the first period of pregnancy
promotes the appearance of hypoxia with subsequent
hypoglycemia, as a result of which
teratogenic effect.
Hypoxia may be associated with geographic conditions;
in particular, at an altitude of 3600-4000m above sea level,
mammals do not reproduce, and the inhabitants of the highlands
localities, e.g. Mexico City (2300m), in children in 75% of cases
there is an open duct battles; in the highlands
Nepal 50% of children have cleft lip and palate.
b) Malnutrition during critical periods of development
embryo can cause fetal malformation. Negative
the effect is exerted by the lack of vit. A, B, B2, B6, B12, etc.
The teratogenic effect of trace elements has been studied mainly
way in relation to iodine, the lack of which in food
the mother causes malformations, most often goiter and
cretinism. c) Hormonal discorrelation - in human pathology
the most studied malformations of children born
women with diabetes. They have ugliness of children
occur 6 times more often.
d) Teraitogenic poisons - chemical substances, the presence of which
in the body of the mother or fetus cause deformities. To them
relate:
deoxidants (alcohol, chloroform, etc.). They cause
fetal hypoxia.
antimetabolites for vitamins and hormones (antivitamins,
antienzymes)
some substances vegetable origin(e.g. factor
sweet peas), they determine the selective
damage to the embryo due to inhibition of activity
some sex hormones.
the effect of radiochemicals, i.e. chemical compounds,
imitating the effect of ionizing radiation, for example, mustard gas.
Teratogenic poisons are chemical mutagens.
Small doses of mutagens do not have an immediate noticeable effect
on the body. But in his germ cells, mutagens cause
hidden changes that are in accordance with the laws
Mendel reveal a vivid variety of new features in
offspring. 3. Biological factors.
Viruses, bacteria and their toxins during a critical period
embryogenesis inhabiting the mother's body can have a direct
action on the embryo, penetrating into the tissues of the latter through
placenta, and cause deformity, by increasing the temperature,
altering the supply of oxygen, disrupting endocrine
function or vitamin balance. From bacteria that
pass through the placenta and cause fetal disease,
the bacteria of syphilis should be noted. Teratogenic
the effect is exerted by the infection of the mother with staphylococci,
streptococci, pneumococci, gonococci and bacteria
parophyte, tuberculosis, mycobacterium leprosy. From
protozoa have the greatest teratogenic influence.
about c o p l a z m s. 50% of all births of children with
malformations of the central nervous system and up to 30% of other malformations
associated with maternal toxoplasmosis. Toxoplasmosis
can be transmitted in utero, but usually with
absence of signs in the mother. Distinguish between acquired and
congenital toxoplasmosis. Congenital toxoplasmosis
occurs as a result of infection of the fetus. That's why
recommend to organize an examination for toxoplasmosis of all
women in the earliest stages of pregnancy and
to establish a diagnosis of toxoplasmosis, carry out a special
treatment. 4. Mental factors.
The pathogenesis of mental trauma
due to hyperadrenalinemia,
which can cause frustration
placental blood supply, and
the latter being even
short-term, can serve
the cause of the deformities (i.e. due to
theory of stress). II. Endogenous causes.
There are currently about 500
human diseases, hereditary
the occurrence of which does not cause
doubts.
Heredity - cleft lip and palate
can be transmitted as dominant,
and on a recessive basis. At present
time for hereditary human diseases, in
incl. and congenital malformations,
great attention is paid. In relation to
to various etiological factors
the hereditary nature of the clefts of the upper
lips and palate is 10%. Biological inferiority of genitals
cells are inferiority in
fertilization, to form a complete
zygote. This is an inferiority m.
due to heredity,
"eruption" of germ cells when
long retention in the genital tract and
damage to germ cells. A number of authors
believe that the father's metabolic disorder
can lead to disorders
spermatogenesis. For example, pathological
sperm are detected in 75%
chronic alcoholics. Pathogenesis of congenital defects of the face and jaws.
Congenital cleft lip and palate develops due to
impaired fetal development in the first three months
embryonic development. In the third week of embryonic
period in the carnial part of the human embryo
a primary oral or naso-oral fossa appears, a deepening called the "stomodeum". In the fourth week, this
the plate is washed, forming the mouth opening,
covering the anterior end of the intestine. During
formation, this depression acquires a pentagonal
shape surrounded by ridges: from above unpaired frontal
process, from below by paired mandibular processes
(first branchial arch) and laterally by the maxillary
shoots. The formation of the sky occurs at the end of the second and
during the third month of the embryonic period.
With the normal development of the fetus, separation is provided
of the oral cavity from the nasal and right half from the left. V
as a result of accretion of processes existing in
in the embryonic period, the gaps disappear during the formation
faces. Lack of partial or complete fusion
of the above formations leads to
the occurrence of congenital facial defects (to
clefts of the lip and palate, transverse and oblique fissures
faces, etc.)
Isolated cleft lip, isolated
clefts of the hard soft palate and associated
defects of the lip and palate may occur due to
the fact that the formation of the lip in the embryonic
period occurs earlier than the formation
sky.
That. lip and palate formation begins on the 6th
week of uterine life; by the 11th week it is formed
lip and hard palate, and by the 12th week a friend grows together
with the other fragments of the soft palate. Lateral cysts and fistulas of the branchial
origin. Lateral - in the area of internal. the edges
sternocleidomastoid muscle, in the area of its middle third. Upper
the pole of the cyst is located under the posterior abdomen 2
abdominal muscle and styloid muscle, lateral
the wall is adjacent to the internal jugular vein at the level
bifurcation of the common carotid artery. Same after
autopsy - fistula (complete, incomplete).
Fistulas of the branchial arch or pre-auricular fistulas. Are situated in
a typical place on the auricle. Their development is connected
with impaired embryogenesis of the external auditory canal
and auricle. This malformation is often transmitted
by inheritance (autosomal dominant type
inheritance). In most children, it is detected when
birth as a hole in the skin of the upper base
curl. Much less often, the hole is located at
the base of the ear tragus. The walls of the fistula are lined with leather,
openings are secreted grease-like contents. Fistulas
easily become infected and suppurate. The lumen of the preauricular fistulas is uneven,
near the external auditory canal often
reveal its wide ampoule
cyst-like enlargement that may
palpate under the skin in front of the tragus
ear. The fistula ends blindly on one of the
surfaces of the cartilaginous department
external auditory canal.
Treatment. Surgical. Fistula walls or
cysts must be removed completely, in
otherwise, a relapse develops. 2. Lateral cysts and fistulas. The source of their education
are the preserved epithelial remains
branchial apparatus 2 branchial cleft, 3 pharyngeal
pocket and goiter-pharyngeal duct.
These epithelial debris in the lateral regions of the neck are rare
manifest themselves in the early childhood, only at 12-16
years they are under the influence of a number of factors (inflammation,
trauma) begin to grow.
Lateral cysts, as a rule, do not cause discomfort.
Only upon reaching a large size or suppuration
they can make it difficult to eat, cause pain,
exert pressure on the neurovascular bundle.
They are located in a typical place - sleepy
triangle. Cyst sizes vary from walnut
to the baby's head. Palpation reveals gently
elastic formation, mobile and painless.
Lateral cysts of the set often suppurate.
Treatment. Surgical. Operation efficiency
depends on the isolation of the cyst as a whole with the membrane.
The operation is complicated because the cyst membrane is very thin,
intimately associated with the fascial sheath of the vascular bundle of the neck. Lateral fistulas. Distinguish between complete and incomplete
fistulas. The course of a complete fistula is
continuous tube from the skin of the neck to the palatine
tonsils. Incomplete external lateral fistula
has only an external opening on the skin of the neck, the second
the end of the fistula ends blindly in the tissues.
An incomplete internal lateral fistula of the neck has an ostium
in the area of the palatine tonsil and blind passage in the tissues
neck. Typical location is on top of the vascular
neck bun over the inner jugular vein... From the duck
fistula is a small amount of transparent
fluid consisting of epithelial cells and
lymphoid elements.
Treatment. Surgical. For more
accurately determine the direction of the fistula in its
external orifice, 1% is administered before the operation
an aqueous solution of methylene blue. Median cysts and fistulas of the neck. Median cysts
and fistulas are first diagnosed at the age of 2-3 years,
before that they proceed secretly. Often replenished
fistulas are opened and remain (complete and incomplete).
Median cysts and fistulas of the neck are formed from
remnants of unreduced thyroid-lingual
duct, which is formed at 3-5 weeks
embryo during the development of the thyroid gland.
Median neck cysts occur at any level
thyroid-lingual duct - from the blind foramen
in the area of the root of the tongue to the isthmus of the thyroid
glands. Depending on the localization, they are distinguished
cysts of the root of the tongue and median cysts of the neck in
the area of the hyoid bone. Cysts of soft elastic consistency, round in shape.
The median cyst is differentiated from
chronic chin limadenitis
lymph nodes. Distinguish between incomplete
wrist and full internal median
fistulas of the neck. Full - ends at the bottom
the oral cavity at the root of the tongue. Incomplete -
ends with a blind thickening at the bottom
oral cavity. Treatment. Surgical. Produce
radical surgery - remove the cyst,
the hyoid bone with which it is intimately connected. 2. Anomalies of the frenum of the tongue. Clinical picture
represented by a violation of the act of sucking and speech,
surgical treatment in infancy, less often
later. Malformations of the language - microglossia,
incorrect position of the tongue.
3. Malformations of the nose - isolated malformations
the nose itself, in combination with the surrounding tissues and
organs (hypertelorism, microphthalmos, cerebral
hernia, etc.)
4. Pierre Robin's syndrome - underdevelopment of n / h,
glossoptosis (violation of motor innervation
tongue), cleft palate. View - "bird's face".
The first symptoms are retraction of the tongue, difficulty
breathing soon after birth. Children are restless
severe cyanosis, suffocation may occur. In
seizure often develops during feeding
asphyxia.
Content
In medical practice, this pathology is extremely rare. At the same time, Treacher-Collins syndrome is a congenital disease, the causes of which are due to the fact that the parental gene changed due to mutational processes is inherited by the child, whose body, even at the stage of embryogenesis, begins to experience severe consequences of this condition. Learn about the manifestations of this ailment, as well as about modern ways of diagnosing and treating it.
What is Treacher-Collins syndrome
The specified pathological condition is a purely genetically determined ailment, which is characterized by congenital deformation of the bones of the skull, or maxillofacial dysostosis. In the medical environment, Treacher-Collins disease has another name - Franceschetti syndrome. The disease is usually inherited from parents with spontaneous mutations in the tcof1 genes.
Symptoms
Treacher's syndrome is characterized by polymorphism of clinical manifestations. In this case, the first signs of the disease appear already at the stage of intrauterine development of the fetus, therefore, a newborn is born with all the symptoms of an anomaly in the structure of the skull. The main symptom of pathology in sick children is multiple defects of the facial bones, which is noticeable even with a passing glance at the photos of those suffering from this ailment. One of the most striking manifestations of the syndrome is a violation of the normal form of the palpebral fissure. Among other symptoms of Treacher-Collins disease, it is worth highlighting:
- violation of the development of the bone structure of the cheekbones, lower jaw;
- a defect in the soft tissues of the oral cavity;
- lack of auricles;
- colobomas of the eyelids;
- sunken chin;
- hearing impairment;
- splitting of the upper palate;
- violation of the bite.
Causes of the disease
Treacher's syndrome is a genetic disease, the occurrence of which, in most cases, is not influenced by any external or internal factors. We can say that pathology is initially incorporated into the amino acid code of the unborn child and begins to manifest itself long before his birth. It has been scientifically proven that spontaneous changes in the structure of DNA (gene mutations) in persons with the syndrome occur on chromosome 5. The latter is the longest nucleotide structure in the human genome and is responsible for the production of material for the fetal skeleton.
Mutations occur due to the failure of intracellular protein synthesis. As a result, haploinsufficiency syndrome develops. The latter is characterized by a lack of protein necessary for the proper development of the facial part of the skull. With all this, you should know that Treacher-Collins disease is autosomal dominant, less often autosomal recessive. A gene defect is inherited by children from sick parents only in 40% of cases, while the remaining 60% are due to new mutations, which often cause the following teratogenic factors:
- ethanol and its derivatives;
- cytomegalovirus;
- radioactive radiation;
- toxoplasmosis;
- taking anticonvulsant and psychotropic drugs, drugs with retinoic acid.
Stages of development of the disease
Treacher-Collins disease has three stages. On initial stage of its development, there is a slight hypoplasia of the facial bones. The second stage is characterized by deformation and underdevelopment of the auditory canals, a small lower jaw, anomalies of the palpebral fissure, which can be traced in almost all photos of patients with the syndrome. Severe forms of pathology are accompanied by an almost complete absence of a face. At the same time, signs appear rare disease gradually and with age (as can be seen in a retrospective analysis of patient photos), the problem is exacerbated.
Complications
One of the most serious consequences of Treacher's syndrome is considered to be underdevelopment of the oral apparatus. Significant deformation of the teeth, jaws and the absence of salivary glands lead to the lack of patients' ability to take food on their own. In addition, a congenital anomaly can provoke the appearance of diseases of the respiratory system due to the large size of the tongue and overgrowth of the nasal passages.
Diagnostics
Prenatal examination of maxillofacial anomalies is performed at 10-11 weeks of gestation using a chorionic villus sampling. The procedure is quite dangerous, so doctors prefer to use ultrasound in the prenatal diagnosis of Treacher's syndrome. In addition, blood tests are taken from family members. At 16-17 weeks of gestation, a transabdominal amniocentesis procedure is performed. After some time, fetoscopy is prescribed and blood is taken from the fetal placental vessels.
Postnatal diagnosis is carried out on the basis of the existing clinical manifestations. With the full expressiveness of Treacher's syndrome, questions, as a rule, do not arise, which cannot be said when insignificant signs of this pathology are found. In this case, a comprehensive diagnosis of the condition is carried out, including the following studies:
- evaluation and monitoring of feeding efficiency;
- audiological hearing testing;
- fluoroscopy of craniofacial dysmorphology;
- pantomography;
- CT or MRI of the brain.
Similar research methods are used when it is necessary to conduct differential diagnosis in order to recognize the mild manifestations of Treacher-Collins disease and distinguish them from signs of other pathological conditions. So, in most cases, experts prescribe additional instrumental studies to differentiate this ailment with Goldenhar syndrome (hemifacial microsomia), Nager.
Treatment for Treacher-Collins syndrome
Today, there are no therapeutic methods to help people with deformation of the structures of the facial skull. Patient care is strictly palliative. Severe forms of the syndrome are an indication for surgery. In order to correct hearing, for those who suffer from a rare anomaly of the auricles, wearing a hearing aid is recommended. With all this, we must not forget about psychological assistance sick with Treacher's syndrome. Support from family members and friends play an important role in the subsequent normal social adaptation of persons with craniofacial dysostosis.
