DEFECTS OF DEVELOPMENT. PLASTIC SURGERY

Congenital abnormalities of the organism’s development, during which its functions are damaged or impossible, are called maldevelopments. Those malformations, which deform the external form of a body, especially if they at the same time reduce viability of an individual, are named congenital malformations.

Small deviations from the normal type of the organism structure, which are on the verge of physiologic variations, are named anomalies.

A majority of people with heavy congenital malformations require surgical treatment. Duly operative intervention for some defects is the only means for rescuing the life of the patient.

Congenital malformations are known from ancient times, some rough infringements of body form drew attention to themselves during the prehistoric period. A number of the facts prove it. Rock paintings made many millennia ago represent twins which “conjoined”. In the Babylon’s cuneiform (3800–2000 B.C.), which is translated and published by the British museum in 1870, there is the table with 62 kinds of congenital malformations. It is known, that XI and XII dynasties pharaons (2400–1780 B.C.) were sick with pes equinovarus. In the main text of the Talmud edited in II centure B.C. a list of more than 100 kinds of congenital malformations is given.

Before the development of such disciplines as embryology and comparative anatomy, the occurrence of congenital malformations was explained by their paranatural origin, coupling with animals (hybrid theory), coupling during menses time, “maternal impressions”, that is unexpected and strong impressions of the pregnant woman. The latter theory was supported by many scientists not only of ancient times but also during the Renaissance, for example, Paracelsus and Ambruas Pare′. The most outstanding philosopher Aristotle recommended to guard pregnant woman against unpleasant impressions and surround her with beautiful objects that will promote the beauty of the child. Despite the fact that Aristotle proved the absurdity of the “hybrid theories”, there are documents that up to the XVII century in Denmark and America there were cases of execution of women who gave birth to children with congenital malformations and who were accused in coupling with animals or the devil. However, already in those days there were materialistic approaches concerning treatment of congenital malformations. Hippocrates explained the occurrence of some congenital malformations by mechanical influence on the uterus (trauma, compression).

Johan Meckel Jr. (1781–1833) gave especial contribution to the development of the doctrine about malformations. He described a significant amount of malformations, which were known before, created classifications for the malformations, tried to explain the reasons and mechanism of their formation. Meckel concluded that the majority of malformations are not whims of nature but consequences of damaged normal development of body, that to a certain extent is the recurrence of phylogenesis.

Genetic science considerably enriched our knowledge about the aetiology and pathogenesis of congenital malformations and expanded opportunities of their prevention. Direct transfer of some congenital malformations from parents to children was known even in ancient times. However, scientific proof of the genotype theory began only in the XX century, namely after the second discovery in 1890 by De-Frieze, Korens and Chermak of the basic laws of heredity of G. Mendel. In the beginning in 1955 about 1,500 hereditary diseases and congenital malformations became known. Genetic means of researches have got the widest application after the discovery of chromosomal aetiology of some already known syndromes (Down’s, Klinefelter’s, Shereshevsky—Terner’s) in 1959.

The study of questions concerning malformations proves that each deviation from the normal organism structure needs to be studied from two sides: how it arose and why it occurred. Comparative and experimental fetology answer these questions.

The reasons of occurrence of congenital malformations can be internal (endogenic) and external (exogenic). Endogenic reasons:

changes in the hereditary structures (mutation);

over-matured sexual cells;

age of parents.

Mutations can occur on the genic, chromosomal and genome levels. Genic mutations are connected to changes in the internal structure of certain genes and predetermine transformation of one kind of allele into another. With chromosomal mutations the following can occur:

interchromosomal exchange of segments;

doubling of the chromosomal site;

breaking of the chromosomes with the loss of a part of the chromosomal material.

Genome mutations are a change in the amount of chromosomes. An increase in the amount of chromosomes is observed more often, less often — reduction. Genome mutations are accompanied by changes in the phenotype of the fetus and can result in involuntary abortion or chromosomal illnesses like Down’s, Edwards’, etc.

External reasons for the occurrence of congenital malformations can be divided into four groups:

physical factors;

chemical factors;

infectious-inflammatory factors;

mental factors.

Physical factors: radiation influence. There is no direct proof concerning the doses of ionizing irradiation received by the modern person. However, in experiments on mammals it is proved that ionizing irradiation is the reason for many congenital malformations. The similar effect for a person is not excluded.

Mechanical factors which cause congenital malformations are as follows: amniotic conjoins, superfluous uterus pressure or a tumour on the developing fetus, in the case of oligoamnios or a large myoma.

Chemical factors include adverse influence of alcohol, lead, mercury, nicotine, benzene, chloroform, deficiency or reduction of magnesium salts, iron, iodine in the organism, insufficiency of vitamins A, D, E, B₁, C, as well as hormones. Insufficient supply of an organism with oxygen has great value.

Infectious-inflammatory factors are infections in early terms of pregnancy: rubella, measles, epidemic parotitis, infectious hepatites, smallpox, poliomyelitis, etc.

Negative factors, which influence the development of the fetus and cause congenital malformations, are long absence of pregnancy, artificial abortion, as well as tuberculosis, syphilis and other diseases.

During war the amount of deformities increases, which is a mental factor for the occurrence of congenital malformations.

In different countries the frequency of congenital malformations ranges from 1 for 83 newborns to 1 for 1587 newborns, i.e. on the average 1 congenital malformations for every 213 newborns. In the same country the amount of congenital malformations depends upon race. In America the people of the white race have the incidence of congenital malformations 2 times as much than for the black race (5.72— in whites and— 3.17 in negros for 1,000 newborns). Congenital malformations of the auricle for people of the yellow race are observed more often than for the black race and is even more often than for white people.

Classification of Congenital Malformations and Anomalies

It is accepted to distinguish single congenital malformations which concern infringements of development of one organism and double (multiple) deformities, which consists in infringement of development of two and more fetuses which are in the uterus at the same time.

There are distinguished the following groups of single anomalies:

anomalies of the sizes of the entire organism or certain organs:underdevelopment (hypogenesis, hypoplasia) or absence (agenesis, aplasia) of an organ or tissue; superfluous development of an organ or tissue (hypergenesia, hyperplasia);

anomalies of the amount of organs both in growth (polydactyly), and reduction (bidactyly);

anomalies of the form (talipes);

anomalies connected with the stopped development of organs, preservation of atavistic attributes, accretion or narrowing in unusual places: atresia, or stenosis of the anus; nonunion in corresponding zones of the developing fetus (brain hernias);

anomalies of localization — reverse accommodation of organs (heterotopia) — heart, appendix, liver, etc.;

Anomalies connected to infringements of genital development(true or artificial hermaphroditism).

Double (Multiple) Anomalies

If full division of a germ has taken place, monoovular twins develop and deliver. In case of incomplete division of two primary stria double anomalies arise. The embryos appear conjoined in variable positions (merging of the head, upper, middle or lower parts).

If the foetuses are identical in size, they are called symmetric; if one of them is more or less underdeveloped and connected with another, completely developed fetus, the anomaly is asymmetric (for example, amorphous — shapeless anomaly, or polymelia, when only some extremities remained from the foetus which grew together with the other normal foetus.

Double anomalies are distinguished according to the way of cytotrophy: autositic — each fetus has an independent system of blood circulation;

omphalositic — each fetus nourishes through umbilical vessels;

parasitic — one of the fetus (parasite) has no independent blood circulation, thus on the body of the quite developed fetus there is another, less developed fetus.

According to the degree of viability and life expectancy:

organisms which perish during the early germinal period;

organisms viable during the intra-uterine period but are notcapable of independent existence after birth (some malformations of the heart and the lung, GIT diseases, majority of the double anomalies;

organisms which are born quite viable and can continue to liveafter birth (anomalies of the extremities, partial giantism, etc).

In 1975 at the XXIX World Assembly of Public Health Services, the classification was adopted the basis of which is anatomical-physiological principle of dividing a person’s body into the systems of organs:

A. Congenital malformations of organs and systems:

malformations of the CNS and sense organs;

malformations of the face and neck;

malformations of the cardiovascular system;

malformations of the organs of digestion;

malformations of the osteomuscular system;

malformations of the urinary system;

malformations of the genitals;

malformations of the endocrine glands;

malformations of the skin and its derivatives;

malformations of the afterbirth;

other malformations.

B. Multiple congenital malformations:

chromosomal syndromes;

genic syndromes;

syndromes which are predetermined by exogenous factors;

syndromes of uncertain aetiology;

multiple malformations of non-specified aetiology.

The amount of congenital malformations reaches more than 1,500, in this lecture we shall concentrate our attention only on those observed more often and give some examples from each anatomic system.

The part of congenital malformations in the CNS makes more than 30% from all malformations observed in children. Anencephalia is the absence of the brain, bones of the arch of the skull (acrania) and soft covers of the head. With congenital malformations of development of the arch of the skull, brain and its membranes, brain hernias occur. Depending upon the contents, brain hernias are divided into four groups:

meningocele is a tumour-like formation is the medulla membranes filled with liquid;

encephalocele — the tumour contains brain tissue, arachnoid and vascular membranes;

cephaloma — extrusion of the changed brain substance;

encephalocystocele is a tumour which like the brain tissue, contains spinal liquid.

Brain hernias are placed in typical places: in the front of the nose bridge (anterior brain hernia), posterior, below or above the occipital protuberance (posterior brain hernia — superior if higher occipital protuberance, and inferior if below it). Apertures in the bones are usually round with smooth and shiny edges. They are always smaller than the basis of the extrusion. Extrusions, as a rule, have a round form, elastic consistency, frequently fluctuate. When pressed on, it decreases, pulsates. An overwhelming amount of children with brain hernias die soon after birth as a result of meningitis or oedema of the brain.

Treatment: in the case of small hernias operation is indicated — they expose the basis of the extrusion, tie it, delete all of the extruding tissue and carry out plasty of the defect in the skull cavity.

Atelocephalia — absence of the big hemispheres and subcortex nuclei — severe defect of development, which is seldom observed.

Nanocephalia — reduction in the mass and sizes of the brain (more than 5 cm).

Macrocephalia (megalocephalia) — unusual increase in mass and size of the brain frequently accompanied by oligophrenia.

Hydrocephalia — congenital oedema of the brain, superfluous accumulation in the ventricular system or arachnoid space of spinal liquid accompanied by atrophy of the brain substance.

Defects of Development of the Face and the Neck

Infringements of development of the face, the auricle and the neck are diverse according to both aetiology and incidence and severity degree. Some of them are accompanied by only cosmetic defects (for example, double lip) or remain absolutely imperceptible (epicant), others lead to severe functional infringement in the neonatal period, causing high lethality in children. Defects of this group combine with infringements of development of other systems organs, the living prognosis depends upon their severity.

Deformities of the face occur, mainly, as the result of normal accretion of the clefts stopping in the germ, which take place at this period. Accretion occurs, as a rule, on the second month of the intrauterine life.

Cleft lip or hare lip is observed in one of 2,500 newborns. It can be unilateral or bilateral. Unilateral cleft can be on the right or left (more often on the left). Treatment is surgical. Different plastic operations are applied depending upon the defect. Operations can be performed 2 days after birth, but more often six months after birth.

Macrostomia — abnormally large size of the mouth; can be unilateral or bilateral. It is accompanied by hypersalivation. Treatment — sewing together the corners of the mouth.

Palatoschisis — cleft palate, “wolf mouth” can be full (cracks in the soft and hard palate), partial (only in the soft or only in the hard palate), midline, uni- or bilateral, through or submucous. There is 1 case in 1,000 newborns. The reason is delayed accretion of maxillary processes and vomer.

Treatment depends upon the severity, presence of other defects, includes not only surgical treatment (correction) but also regular dispensary supervision of the children’s doctor and the logopedist and if necessary other experts (neuropsychiatrist, otolaryngologist). Cleft palate in children at the age of up to 6 months is corrected with obturator, plastic operations are carried out for children of 3– 6 years old.

Congenital vascular tumours of the face and neck — hemangioma and lymphangioma are frequently observed.

Hemangioma — purple-red, sometimes cyanotic color spots or tumours.

Lymphangioma — clinically appears as tumescence which sometimes reaches enormous sizes. The skin above the tumour is thin and a colorless liquid appears through it.

Congenital defects of the auricles are observed seldom, 1–2 cases in 10,000 newborns. These isolated infringements of development have rather small clinical value. The infringements of development of the auricle with syndromes range from deformations and infringements of the relief to rough deforming dysplasias and aplasias.

Congenital Defects of Development of the Neck

Short neck — truncation of the neck usually occurs on account of flattening of vertebrae corpus or intervertebral cartilages. It is observed with many chromosomal diseases.

Congenital muscular wryneck — shortenning of the sternocleidomastoid muscle because of focal fibrosis; therefore the child’s head has an inclination to the damaged muscle. The reasons are unknown. Defect occurs often — 12% of all defects of the support-motor system. Treatment is surgical in early childhood.

Median cysts and fistulae of the neck are cavities from the remainder of the thyrolingual passage. They locate under the skin at the site of midline of the neck, between the thyroid cartilage and lingual bone. Size of the cysts is 1 cm.

Lateral cysts of the neck locate along the edge of the posterior belly of the digastric muscle or along the anterior line of the sternocleidomastoid muscle. Lateral cysts of the neck form from the nonreduced remainders of 2 branchial cleft and pharyngeal recess.

Defects of the Thorax

Full cleft of the sternum is observed seldom, combined with the heart prolapse.

Extrusion of the sternum does not cause the change in the organs of the thorax and is not subject to surgical treatment.

Absence or superfluous amount of ribs has no clinical displays and is more often diagnosed casually.

Defects of Development of the Thoracic Organs

Heart and vessel diseases is a group of the most widespread defects, which totals tens of nosological forms. Incidence: 6–10 cases in 1,000 newborns.

Acardia is the absence of the heart. It is observed only in asymmetric free twins.

Cardiac ectopia is accommodation of heart outside of the chest cavity. Cervical, abdominal and extrasternal ectopia are distinguished. The latter makes up 51.2% of all cardiac ectopia. Abdominal ectopia usually has an asymptomatic course, other defects result in death.

Dextracardia — heart location on the right. It is observed in inverse location of all internal organs and is a rare isolated defect.

Coarctation of the aorta — narrowing of the isthmus of the aorta. 1 case in 6,500 newborns is observed. This defect is twice as often in men than in women. Coarctation of the aorta appears as hypertension of the upper part of the body and hypotension of the lower one. First attributes are observed at the age of 10 months. Treatment is surgical with full correction of the defect.

Aortic stenosis. The narrowing can be observed both at the valve level and at the initial department of the left ventricle, less often — higher than the valves.

Defect of interatrial membranes is one of the most widespread heart diseases: 1 case in 1,000 newborns. It is observed in women more often than in men.

Three-chambered heart with one general atrium is the absence of the interatrial membrane. Enough rare and usually lethal defect which is connected to other heart and large vessels diseases. Treatment is surgical.

Fallot’s tetrad — stenosis of the pulmonary trunk, high defect of the interventricular membrane with the diameter of 2 cm, dextroposition of the aorta. The fourth component of the defect is hypertrophy of the right ventricle. Clinical displays: cyanosis (amplifies with years), dyspnea, rough systolic noise in the second and fourth intercostal on the left. Prognosis is unfavourable. More often children die at the early age from infringements of blood circulation in the brain, but sometimes live 20–30 years. Treatment is surgical.

Fallot’s triad — valval stenosis of the pulmonary artery connected to the interatrial membrane defect and hypertrophy of the right ventricle.

Transposition of vessels — the aorta comes out from the right ventricle, the pulmonary arteries — from the left one. With the absence of shunts (defects of the membrane, open arterial passage) the defect is not compatible with life. Prognosis is unfavourable. Children die under the age of one. Treatment is surgical.

Anomalies of the valves are generally the compound components of complex congenital heart diseases. Foraminous valves, valves with recesses, as well as increase and decrease in the amount of apertures of valves are not accompanied by haemodynamic infringements. Aplasia of the apertures of the semilunar valves, especially the aorta, is more often observed.

Defects of Development of the Respiratory System

Defects of the throat are not frequent and appear generally as infringements of development of the cartilaginous structures (thyroid cartilage, epiglottis), such as aplasia, hypoplasia, infringements of accretion, etc.

Tracheomegalia is an increase in the trachea, mainly because of an expansion of its aperture. Treatment: conservative.

Pulmonary agenesia (aplasia) — absence of the lung and the main bronchial tube. It occurs more often in boys. Left-side agenesia is observed twice as often than the right-side one. Treatment is symptomatic.

Pulmonary hypoplasia is a rather uniform reduction of pulmonary mass and volume.

Bronchogenic (disontogenic) cysts — round cavities of different sizes separated from the surrounding pulmonary tissue. The most often lung defect. Cysts can be solitary and multiple.

Congenital diaphragmal hernias is a moving of the abdominal organs into the chest cavity. It can be true or artificial (more often). In case of artificial hernias the hernial bag is absent. Treatment is surgical, with the presence of artificial hernias — emergency.

Defects of Development of the Digestive Organs

In the esophagus atresia is observed, which is usually accompanied with the formation of tracheoesophageal fistula. The following defects may develop:

two segments, which blindly come to an end;

one segment, that comes to an end blindly, and the second,

which opens into the trachea;

two segments, which open into the trachea;

anastomosis between the trachea and esophagus.These defects are accompanied by aspiration pneumonia.

In the stomach stenosis of the pylorus (pylorostenosis) is observed more often.

In the intestines stenosis and atresia, single or multiple, form.

More often they locate in the duodenum and at the place of transition from the ileum into the cecum, as well as at the distal areas of the rectum. Full or partial doubling of the intestines both the small and large, and doubling of the appendix are occasionally observed.

Dolichosigma is a congenital prolongation of the intestine without its expansion. The sigmoid colon, as a rule, forms 2–3 additional folds and more.

Megasigmoid is a frequent defect (Hirschsprung’s disease). This expansion and hypertrophy of a part of the colon, generally the sigmoid, is connected to its peristalsis infringement. Treatment is surgical, consists in removal of the aganglionic zones and pathological changed expanded sites located above the site.

Two defects of development of the intestines are connected with the preservation of the embryonic structures. It is hernia of the umbilical cord and fistula at the navel area. With partial preservation of passage, Meckel’s diverticulum forms. It is similar to a glove’s finger and exits from the ilea at a distance of 25 cm and more from the Bauhin’s valve.

Congenital defects of development of the biliary tracts consist of an unusual position of the gallbladder and its size, occurrence of cysts of the common biliary tract and atresia or stenosis of one of the biliary tracts. The latter is connected with intrauterine hepatitis therefore biliary cirrhosis of the liver takes place.

Anorectal anomalies are observed in 0.25–0.66% of the cases, twice as often in girls than in boys. The following anorectal anomalies are distinguished:

Ectopia of the anus (perineal and vestibular).

Congenital fistulae in the sexual and urinary systems or in theperineum in the case of normally developed anus.

Congenital narrowing of the anus, rectum, anus and rectum atthe same time; occurs more often in boys.

Atresia:

simple;

with fistulae in the sexual or urinary system;

casuistics (congenital cloaca, atresia and doubling of the rectum).

Defects of Development of the Urinogenital System

Defects of development of the urinogenital system are frequently observed. They make 30% all cases of congenital defects. Anomaly of the amount of kidneys can appear bilateral arenia (renal agenesia), that is the absence of kidneys. Boys are more often affected. The child has a characteristic face (“Potter face”): widely placed eyes, low placed big ears, thick nose, insignificant epicant.

Unilateral arenia is the presence of one kidney. It can have a normal structure or have defect of development: dysplasia, hypoplasia, ectopia, doubling. Clinically these defects appear accidentally or in the case of disease of one kidney.

The additional kidney has a normal structure with a separated excretion and vascular system. Usually it is smaller in size and placed below the normal kidney.

Anomalies of position, form and orientation of the kidneys are as follows:

— dystopia (ectopia) — abnormal location of the kidney. With simple dystopia the kidney is placed on the same side but in an unusual place, with cross — it is shifted to the midline with a crossing of the ureter. Dystopia is necessary to differentiate from nephroptosis, during which the renal artery leaves from the usual place, and the ureter has a normal length. Accretion of the kidneys can be symmetric and asymmetric; they can grow together at the upper, lower and different poles. Horseshoe, biscuit-like, L- or S-like kidneys form. This defect is observed twice as often in men. Practically all accretion of the kidneys are malrelated. Anomalies of the renal structure are as follows:

а) renal dysplasia can be simple and cystomic, after the localization — cortical, medullar, cortico-medullar; after the spreading — focus, segmentary and total, uni- or bilateral;

b) renal polycystosis is a congenital defect characterized by multiple cysts in the renal parenchyma with the absence of dysplasia.

Agenesia of the urinary bladder is a defect which results in death.

Doubling of the bladder — anomaly which is seldom observed.

Diverticula of the bladder is extrusion of its walls which come to a blind end. Diverticula are single and multiple.

Extrophy (ectopia) of the bladder is a congenital crack of the bladder and abdominal wall. The posterior wall of the bladder which is covered with a velvety mucous membrane extrudes through the defect in the abdominal muscles to the outside. The opening of the ureter is gaping.

Patent urachus — an open passage of the alantois:

patent urachus from the navel to the bladder with a urinaryfistula which opens into the navel;

urachus obliterated in the umbilical segment; defect has no clinical displays;

partially patent urachus with an obliteration of the ends and open middle area (cyst urachus).

Treatment for a total patent urachus is surgical during the first days and months of life.

Hypospadia — the lower crack of the urethra. One case in 300 newborn boys is observed. There are distinguished 5 forms of this defect: “hypospadia without hypospadia”, coronal, penile, scrotal and perineal. For all forms of hypospadia the curvature of the penis, shift of the external aperture of the urethra are typical. Depending upon the form the external aperture can be placed on the penis from the bottom surface of the caput to the perineum. In the case of perineal and scrotal forms, the scrotum splits, cryptorchism, wide pass to the urethra, reminding the entrance to the vagina, are observed. It can lead to erroneous determining the patient’s sex. In 8– 10% of the cases, hypospadia is accompanied with hermaphroditism. Treatment is surgical.

Epispadia — top crack of the urethra. It is accompanied with curvature of the penis, its pulling up and retraction into the surrounding tissue.

Aphalia (agenesia, aplasia) of the penis is a very rare defect (one case in 30 million newborns). Thus, the ureter opens into the rectum or on the skin of the perineum.

Macrophallus — increase in the penis — defect that is seldom observed. Sexual glands, as a rule, are not changed.

Microphallus — sharp shortening of the penis. It is accompanied by short corpus cavernous and a small caput, cryptorchism.

Phimosis is congenital narrowing of the prepuce, preventing its being drawn back over the glans. It is complicated by balanoposthitis, formation of concrements, ulcers and sores of the prepuce. Treatment is conservative and surgical during the neonatal period.

Paraphimosis — pinching of the prepuce. This defect is a complication of phimosis. Treatment consists in urgent operation.

Cryptorchism — delay in the testicles lowering into the scrotum. If one testicle does not lower — monorchism, with total absence of the testicles — anorchism. Complication of these defects: infertility. Treatment is surgical: lowering the testicle into the scrotum up to 2– 3 years of age.

Congenital defects of female genitals are frequently observed.

Vaginal atresia (lumbar membrane of the vagina) is combined with atresia of the anus, different urinogenital fistulae and anomalies of the urinary system.

Anomalies of the uterus:

cervical agenesia is observed seldom;

agenesia of the uterus — full absence of the uterine corpus

with normal female karyotype — observed extremely seldom, it appears during sexual maturing in connection with amenorrhea.

Hypoplasia of the uterus (rudimentary uterus, infantility). There are three degrees of anomaly: germinal uterus (length up to 3 cm); infantile (3–3.5 cm) and teenage (5–7 cm). The uterus thus has a superfluous forward bend and a conic cervix. This defect is accompanied by menstrual cycle disorders and infertility.

Doubling of the uterus (bifurcation of the uterus) — the cervix and the both vaginas are grown together.

The double uterus is characterized by the presence of two separated uteruses, each of which joins the corresponding part of the doubled vagina.

Saddle-shaped uterus is the defect where the bottom of the uterus does not have a usual rounding. Anomaly of the ovaries is characterized by their absence (agenesia), underdevelopment (hypoplasia), infringement of development (dysgenesis). Absence of two ovaries (anovaria) is described only in nonviable fetuses. It’s usually accompanied with underdevelopment of the genitals.

Artificial hermaphroditism is discrepancy between structure of the gonads and the structure of the external genitals.

Artificial male hermaphroditism — the patients have testicles, but the external genitals are formed by the female type. Three forms of anomaly are distinguished:

feminism where the patients have female type of constitution;

virilism or masculinism; type of constitution is masculine;

eunuchoidism (eunuchoid type of constitution) — absence of the development of breast and secondary pilosis.

Artificial female hermaphroditism — patients have ovaries, and external genitals develop by the masculine type. More often attributes of female hermaphroditism are observed in cases of pronounced hyperplasia of the cortex of the adrenal glands. Treatment — hormonal, should be appointed as soon as possible.

True hermaphroditism (ambisexuality, bisexuality) — presence in one organism of sex cells of both sexes, and also two sexual systems. Treatment: hormonal and operative, depending on the desire of the patient.

Defects of Development of the Locomotor System

According to the International Classification and Nomenclature of the Constitutional Diseases 5 basic groups of skeletal diseases are distinguished:

Osteochondrodysplasia — infringement of growth and development of the cartilage or bone.

Distosis of the bones.

Idiopathic osteolysis — lisis of bones with secondary deformations.

Chromosomal aberrations with unusual skeletal anomalies.

Primary metabolic defects (infringement of metabolism).

An increase in the amount of vertebrae is observed in the lumbar and sacral areas of the backbone more often.

Additional sphenoidal vertebrae or half-vertebrae. The defect is characterized by the presence of lateral or posterior additional halfvertebrae observed in the thorax part of the backbone more often.

Patent (aplasia) vertebrae arculus with aplasia of the spinous process (spina bifida).

Kyphosis — curvature of the spine, with backward convexity. It can be total or local.

Lordosis — curvature of the spine with convexity looking anteriorly.

Flat back — obturated physiologic curvatures of the spine.

Scoliosis — lateral curvature of the spine which combines with its torsion.

Anomalies of the ribs are observed seldom. Aplasia or additional ribs are mostly met.

Anomalies of the Extremities

Reduction defects consist in the stoppage of formation or insufficient formation (insufficient growth) of the skeleton parts.

Cross-section reduction defects of the extremities (congenital amputations). Observed at any level of the extremity: shoulder, hip, forearm, shin, wrist, fingers and phalanxes. Distal part of the extremity (below the amputation) is absent completely. Treatment depends upon the level of amputation and consists in prosthetics.

Cross-section terminal aplasia (hemimelia, extromelia) — absence of the distal part of the extremity (amputation type) at any level: hemibrachia — absence of the forearm, achyria — hands, apodia — foot, adactylia — fingers, oligodactylia — several fingers, aphalangia — phalanxes.

Focomelia (seal-like extremities) — full or partial absence of the proximal parts of the extremity. 3 forms are distinguished: proximal — aplasia of the humeral or femoral bone; distal — aplasia of the bones of the forearm, shin; full — aplasia of all of the long tubular bones. Hands or feet in this case are attached directly to the trunk, reminding a seal’s fin.

Amelia — full absence of the extremities. Absence of both upper extremities — abrachia, one of the upper extremities — monobrachia, both of the lower extremities — apous, one of the lower extremities — monoapous. Treatment is with the help of prosthetics.

Splitting of the hand, foot (ectrodactylia, chelate hand, chelate foot, lobster hand) — aplasia of certain central components of the hand, foot with the presence of deep sulcus instead of absent bones. Monodactylism — presence of one finger on the hand or foot.

Polydactylia — increase in the amount of fingers on the hand or foot.

Syndactylia — incomplete reduction or absence of reduction of the interdigital membranes.

Syrinomelia (sympodia, symmelia, caudal regression syndrome) — merging of the lower extremities. Both soft tissues and bones can merge.

Congenital talipes (internal talipes) — stable adducting-bending rigor contraction of the feet, which is connected with congenital underdevelopment and shortened internal and posterior groups of ligaments, corresponding flexors and muscular tendons, as well as with infringements of muscular synergism. The process is usually bilateral. Basic clinical attributes: equines (plantar bending of the foot at the ankle joint), supination (returning of the plantar surfaces of the foot with lowering of the external edge as support), adduction (reduction of the anterior part of the foot) increase in the arch of the foot (empty foot); flat feet — flat arches — frequent congenital defect.

Horse foot — rigor contraction of the ankle joint in position of superfluous plantar bending; therefore during walking resistance falls on the fingers and the heads of the metatarsal bone. Treatment consists in manual correction of the foot within the first days after birth, massage and bandaging with soft bandage into the right position. At 5 years the closed correction of the foot (redressment) is performed and to keep it in the correct position a plaster bandage is applied. If conservative measures fail, they carry out surgical treatment on the tendons of the feet or resort to sphenoidal or crescent resection of the bones. These operations are carried out upon the end of bone growth.

PLASTIC OR RESTORATIVE SURGERY

Plastic surgery has existed since the ancient times and corrects, mainly, defects which disfigures a person. In historical documents there is a certificate concerning application of tissue transplantation with the purpose of correcting face defects. More than 8 thousand years ago in ancient Egypt operations concerning the nose restoration were carried out. In the book of the outstanding Indian scientist Sushruta who lived in 1000 B.C., is written about plasty of the nose by taking a skin orifice on the pedicle from the forehead or cheek and returning it to the place of defect. This kind of plasty is called “Indian plasty”. That time the cases of rhinoplasty in Rome, Greece, Egypt are described. The reason for developing skin graftings in ancient people, apparently, was the custom of incision off noses in criminals and prisoners of war.

In Europe plastic surgery began to develop during the Renaissance. In Italy in 1450 a military doctor Branka started to carry out rhinoplasty with the help of local tissue (skin of the forehead, cheeks). His son Antony transferred a flap on the pedicle from the distant sites. He used the flap on the pedicle from the skin of the shoulder. The method is known as “Italian plasty”. In 1802 M. І. Pyrogov suggested osteoplastic operation and developed the method of creating a functioning stump in case of amputation of the foot. In 1865 R. K. Shimanovsky published in Kiev a manual on skin grafting. In 1872 S. M. Yanovich-Chainsky offered a way to transplant skin process in a site of granulation. V. P. Filatov offered the method of skin grafting with the help of tubed pedicle flap, which is widely spread. The works on plastic surgery: M. V. Sklifosovsky, M. M. Petrov, A. A. Limberg, M. A. Bogoraz, M. M. Blokhin, etc are well known.

The plastic surgery uses a number of methods for eliminating defects due to which the organs restore. Depending upon the fact whether the own tissue is transferred into the organism, or it is taken from a donor, whether it is foreign for the living organism, the following kinds of plasty are distinguished:

— autoplasty — transplantation of tissues taken from the same patient. During autoplasty the tissue can transfer on the body with preservation of the nutritious pedicle with a parent basis (involuntary plasty), or is transferred on another place completely from the distant sites of the body (free plasty);

— isoplasty — transplantation of tissues or organs which are taken from monoovular twins. Tissues and organs of such twins are genetically rather similar, therefore tissue restoration occurs as well as with autoplasty;

— homoplasty — transplantation of tissues and organs from one person to another one. Thus, as a rule, it is carried out in a free way;

— heteroplasty — transplantation of tissues and organs taken from individuals of another kind. For example, from an animal to people

(xenoplasty);

— alloplasty — if the transplanting tissue is not of animal origin (metal, synthetic materials).

Depending upon the kind of transplanting tissue, skin, muscular, tendinous, nervous, bone, cartilaginous, vascular and organ plasty are distinguished. Different kinds of tissues and organs can be combined also: skeletal-muscular plasty, liver or pancreas transplantation, etc.

Tissue Incompatibility and Ways of its Prevention

During tissue and organ transplantation from one person to another the real engraftment never takes place. The main difficulties during transplantation are not because of shortage of operative technique (recently it has become perfect and surgeons are able to replace almost whole complexes of organs), but they consist in the immunological nature of each individual which genetically differs from another. Exceptions are only monoovular twins. Allo- and xenogenic transplants as a result of protective immunological reactions are rejected by the recipient’s organism. Certain chemical structural parameters, by which the donor and recipient’s cells differ, are usually responsible for this rejection. They are called transplantation antigens or antigenes of tissue incompatibility. Antigens of blood groups erythrocytes and leukocytes belong to them. The latter make the main complex of antigenes of tissue incompatibility — HLA system in a person (human leukocyte antigen). The cytotoxic action of Т-killers is directed on these antigens.

Genetic researches concluded that transplantation antigens of a person have 5 locuses — serologically they are determined as A, B, C — and lymphocytes, determined as D and DB. Antigens of every locus are allelic; their inheritance is carried out codominant according to Mendel’s laws. Each individual can have only two antigens of one locus. For homozygous individuals for every locus one transplantation antigen is necessary. The existence of dense couplings during inheritance is proved. Crossing-over is observed seldom.

Locus A supervises the inheritance of 20 antigens, locus B — 42, locus C — 8, locus D — 12, sublocus DB — 10 different antigens.

Statistical probability of reliability that two unrelated individuals can be identical is too small (about 1%). For close relatives this chance is a little higher and reaches 25% for sisters and brothers.

The weaker the compatibility of НLA — antigens of the donor and recipient — the stronger the pronounced protective reaction — reaction of rejection in a recipient. The success of transplantation of organs and tissues depends first of all upon true choice of the donor by transplantation antigens, that is typing of these antigens.

Today there are three methods of type:

leukoagglutination reaction;

lymphatic test;

mixed leukocytes reaction.

Prevention of incompatibility of tissues and organs is carried out by three basic directions:

Selection of the donor and recipient according to isoserological properties. But compatible pairs are observed one in some tens of thousands, which troubles the choice.

Changes in immunobiological reaction of the recipient to transplant. It is necessary to remember that oppression of the protective immune reaction results in weakening and destruction of the transplant from the simplest infection, for example flu. There were attempts to irradiate the recipient. However, the rejection was not observed only with the dose causing radiation sickness. The application of different chemical, biological and hormonal (steroid) hormones does not result in the necessary effect, they only prolong the life term of the transplant, without providing engraftment.

Influence of different factors on transplant causes weakeningof inverse reaction of the corresponding organism and reduces its antigenic properties. The transplantation of low-differentiated tissue (cornea, bone, cartilage, fascia) occurs better than transplantation of complex tissue with intensive metabolism. Many means have been applied to reduce the antigenic properties of transplants (irradiation, action of various chemical substances, etc.), but the best results have been received with the application of the lyophilic drying method. It is marked that tissue taken from corpses (which are in the “existance” stage), have less pronounced properties and yield the best results. But the organs received from an alive donor heal better.

Skin transplantation is the most significant department of plastic surgery. Autoplasty is applied more often. There are two kinds: flap coverage of the wound and free skin grafting.

Flap coverage of the wound — the skin flap on the pedicle, which nourishes it, together with fatty tissue in which blood vessels pass which supply the flap are found. The flap’s skin should be wide, unbent without superfluous tightness, uncompressed by a bandage. The most simple kind of skin grafting is freshening and tighting the edges of the wound. For this purpose additional incisions are made, a triangular, oval and other kinds of flaps are created, which are transferred on the nutritious pedicle.

Plasty on the pedicle is applied when the tissue placed nearby is not enough. Skin flaps are taken near the defect, or transferred from distant sites of the body (hand, breast, neck, etc.).

For cheiloplasty and meloplasty they apply Joseph’s, Esser’s, Lexer’s methods (they are applied seldom because of the formation of additional scars). The “Italian” method of plasty on the pedicle is justified. On the shoulder or forearm they cut a tongue-like flap. The wound under the flap is sutured, the hand is brought to the face and the flap is sutured to the tissue of the nose. After healing, the pedicle is separated and a necessary organ is developed.

Bridge-like flap plasty according to G. V. Sklifosovsky and Zontag. The flap has nutritious legs. This kind of plastic yields good results, but is limited concerning application.

Plasty according to V. P. Filatov. They cut the flap on the abdomen, buttock and suture as a tube. One of the ends is squeezed for 5–10 min, so that the blood circulation comes from the opposite end. Then they cut one end, suture in the site of anatomic snuffbox on the hand. After healing the flap is moved to the defect and sutured. In 3 weeks the flap is separated from the anatomic snuffbox and placed above the defect. The length of the flap should not be greater than 10 cm. With the help of this method plasty of the nose, lips, cheeks, ears is conducted; it is applied for “wolf mouth”, noma, etc. For rhinoplasty it is possible to use also “four legged flap”. For plasty of ears auto- and homocartilage are implanted into the Filatov’s tube flap. The Filatov’s tube flap is applied for plasty of the esophagus, vagina, urethra, etc. Wide recognition of this method is received in plasty of trophic ulcers and extremities stumps which do not heal. The defect of this method consists in significant thickness of the flap and heterogeneity of the skin color.

Free Skin Grafting

The most simple methods of free skin transplantation are Reverden’s, Yanovich—Tchainsky’s methods: with a razor they cut slices of the skin with the size of 2–5 mm together with papillary layer and place them on the granulating surface.

The flap method according to Tirsh is as follows — the flaps of the skin are placed on the surface of preliminary deleted granulation. Above a dry bandage is applied or this place is put in the ATU isolator.

The method of plasty with the help of a perforated flap. They take a skin flap, make perforating apertures in a chessboard order, then suture the flap. Recently plastic skin flaps taken with a dermatome (manual, electric, pneumatic, etc.) are applied.

Skin homoplasty is applied for patients with burns in which it is impossible to carry out autoplasty because of the extent of injury. For homoplasty they use both fresh and preserved transplants.

Xenoplasty. For this kind of plasty generally pig skin is used. In our clinic xenoplasty is used even for patients with wounds that do not heal for a long time, for patients with diabetes. Usually such pig skin flap rejects, but the defect considerably decreases in size and subsequently epithelizes fast.

Bone Tissue Transplantation

Transplantation of the bone can be carried out on a nutritious pedicle from soft tissue and as free transplanted auto-, homo- and heterotransplants.

Involuntary bone plasty for the first time was executed by M. І.

Pyrogov during osteoplastic operations of the shin with the application of the heel for support purposes. Autograft for free bone plasty is taken from the tibia more often.

Homoplasty of the bones is applied after lyophilization or fast freezing at the temperatures of –70 …–196°C . Such a bone is preserved at the temperature of –25 …–30°C . Such a bone graft stimulates the regeneration of the recipient’s bone and resolves in 2–3 years.

Bone marrow transplantation is applied as autoplasty and homoplasty. With autoplasty the bone marrow is taken a couple of days before the operation or irradiation. It is preserved by the method of freezing. After irradiation with hypoplasia of the bone marrow they defreeze the transplant and replace it to the same patient. It is better to enter bone marrow intercostally even during homoplasty, which is widely applied for radiation sickness.

Myoplasty

Myoplasty is widely used to stop bleedings from parenchymatous organs (the liver, the kidneys). They use the rectus abdominus muscles, etc. They seal up the medulla membrane sinus, osteomyelitic cavities.

Tendon Grafting

This plasty is applied mainly with autotendons for regenerating the ligamentous apparatus of the joints, for example, cruciate ligaments of the knee joint.

Plasty of the Fascia

The wide fascia of the hips, which can close defects of anterior abdominal wall during central hernias, defects of the diaphragm, esophagus are used more often for plasty of fascia. Strips of fascia are used for strengthening the anus, etc.

Plasty of the Omentum

The big omentum is used to close the wounded parenchymatous organs which bleed, for closing big perforating apertures of the stomach and duodenum, for the creation of vascular organic anastimosis, with cirrhosis of the liver and obliterating endarteritis of the lower extremities.

Peripheral Nerves Grafting

Four kinds of operations are used:

neurolysis;

neuroraphia;

neurotization;

nervous trunk grafting.

The case when the damaged nerve is united end to end by applying perineural stitches made of thin silk is ideal. If it is impossible to connect the ends of the nerve, they resort to transplants usage, mostly homoplasty.

Angioplasty

There are many means of sewing vessels together. All of them are directed on preventing the narrowing of apertures of vessels and the occurrence of a blood clot in it. In clinics quite often sewing devices that allow to sew an aperture of a vessel from 2 up to 15 mm are used. To replace the defect they apply auto-, homo-, or allografts. It is better to use a vein in the case of autoplasty. Lister and N. O. Bogoraz conducted the vein transplantation for the first time in clinic. But it is necessary to remember that veins have valves, therefore veins should be turned around. Recently arterial shunts are used, that is applying roundabout vascular anastomosis.

Organ Transplantation

The thyroid gland transplantation was carried out for the first time by Schiff and Kocher in 1883. With the absence and insufficient function of the gland, people are transplanted free pieces from another person resulting in excitation of the glands vital activity in the recipient. It is better to transplant the glands on a vascular pedicle; the parathyroid glands, ovaries, pancreas and other endocrine organs can be replaced.

Today due to the development of microsurgery and technical training of surgeons, qualitative anaesthesia there appeared opportunities concerning the transplantation of not only isolated organs but also whole complexes of organs (heart with lungs, liver with pancreas, etc.).

Renal transplantation have been carried out already for a long time. There is an evidence that a transplanted kidney lives in a recipient’s organism more than 10 years, especially if the donor is a monoovular twin.

Due to the wide development of vascular surgery and application of artificial blood circulation apparatuses there is an opportunity for the heart transplantation operations. Some thousand of operations have been carried out already in the world. But the problems concerning the legal laws arise. In fact, for good results it is necessary to transplant a “beating” heart. Therefore, when getting a heart from the donor it is necessary to have the relatives’ written approval.

Microsurgions transplant the fingers, the hand, the suture torn off upper and lower extremities with positive remote results.

Alloplasty in Surgery

For the first time in 1542 Vesalius renewed circulation in the artery with the help of a cane tube. Today in vascular surgery various artificial vessels of lavsan, teflon, dacron and other synthetic materials are very widely used. Over 50 years traumatologists successfully connect bones with the help of metal nails, screws, stirrups, wires, silk, kapron, etc. Orthopedists apply artificial joints, vascular surgeons — heart valves, etc.