Congenital amputations are a group of polietiologichesky pre-natal malformations which are characterized by segmentary or total absence of the top or lower extremities. Clinically pathology can be shown by the isolated anomalies of a structure or an aplaziya of hands and/or legs or to be combined with other congenital morphological defects of internals and systems. Antenatalny diagnostics of congenital amputations is based on data of ultrasonography, post-natal – in a clinical picture and results of a X-ray analysis. Specific treatment it is not developed. With age prosthetics of extremities is shown. In the presence of bone shoots the reamputation for the purpose of plasticity of a stump can be carried out.
Congenital amputations are a group of heterogeneous anomalies of development which are shown by partial or total absence of both proximal, and disteel departments of the top and lower extremities. Statistically 10% of all cases have a virus etiology, 10% result from spontaneous damage of chromosomes and 20% treat hereditary forms. The general prevalence of reducing defects makes about 1 case on 20 000 newborns. More than a half (51-53%) of congenital amputations are the isolated unilateral absence of disteel departments of the top extremities (a brush, a forearm). Bilateral defects and anomalies of legs are included, as a rule, into structure of congenital syndromes. Total absence of all extremities meets extremely seldom.
Reasons of congenital amputations
Congenital amputations are heterogeneous pathologies. Their pathogenesis is studied insufficiently, however risk factors are accurately established. All potential etiologichesky factors can be divided into 3 groups: exogenous, endogenous and genetic. In most cases congenital amputations arise at influence of such factors in the I trimester of pregnancy – from 9 to 12 week. During this period there is a formation of extremities. Treat mechanical pressure from an abdominal cavity or the external environment, a trauma the exogenous factors provoking congenital amputations, the abnormal provision of a fruit in a womb, X-rays and ionizing radiation, chemicals, alcohol, drugs, infectious diseases from the TORCH group, errors in mother's food, irrational reception of medicines, a yatrogeniya.
The group of the endogenous reasons of congenital amputations includes anomalies of a structure of a uterus and its structural pathologies, lack of water, obvity an umbilical cord, the accompanying somatic diseases of mother (diabetes, arterial hypertension). Also risk factors are late (after 35 years) pregnancy and private psychoemotional overloads. The leading role in development of congenital amputations is played by a syndrome of amniotic banners. At it the duplikatura of walls of an amniotic cover because of what some segments of extremities can be "cut off" from a body is formed. Over time against the background of deterioration in blood supply of disteel sites the aseptic necrosis of fabrics develops – there is a pre-natal amputation.
Gene and chromosomal anomalies belong to the genetic causes of congenital amputations. Here both hereditary diseases, and spontaneous or the induced mutations enter. In most cases these anomalies arise sporadic, the risk of their repetition at the subsequent pregnancy at the same woman is insignificant. Also congenital amputations can be components of sindromologichesky nozologiya: Möbius, Hankhart, Charlie's syndromes of M, etc.
Classification of congenital amputations
All congenital amputations can be divided into 2 groups:
1. Ektromeliya is an option of congenital amputations at which are absent one, several or all extremities. Here also the fokomeliya, a gemimeliya and a peromeliya belong. Fokomeliya is characterized by lack of a proximal segment. At the same time adjacent parts "are got" at each other, but completely kept. At a gemimeliya there are no disteel departments – brushes and forearms, feet and shins are more rare. Peromeliya is characterized by existence of a rudimentary shoot instead of an extremity.
2. The hypoplasia is followed by a full or partial underdevelopment of one or several segments of extremities. It is very different group of congenital amputations which can affect any quantity of segments on hands and/or legs in any combinations. Unlike a peromeliya, the general structure of an extremity is almost created and can remind a physiological form.
Also congenital amputations can be divided on isolated (simple) and combined. At the isolated forms of anomaly of extremities are not followed by any other malformations. In most cases they arise against the background of mechanical pre-natal injuries or amniotic banners. The combined congenital amputations are combined with other malformations of the child or enter into structure of sindromologichesky nozologiya (Möbius, Hankhart, Charlie's syndromes of M, etc.). They can be caused by both endogenous or exogenous factors, and genetic mutations.
Symptoms of congenital amputations
Clinically congenital amputations are defined from the moment of the child's birth. Changes vary depending on the nature of pathology. At a full ektromeliya the child completely has no top and lower extremities. Options with normally created hands or legs in the absence of other pair of extremities are also possible. Rare option of ektromeliya – existence of a hand and leg on the one hand (right or left). At congenital amputations in the form of a fokomeliya the child has no proximal segments of an extremity – forearms and shoulders, shins and hips. Disteel segments are kept. On condition of total absence of proximal departments of extremities of a brush and foot are directly attached to a trunk.
At degenerate amputations as a hypoplasia of an extremity are in deeply underdeveloped state. Underdevelopment of disteel departments of extremities is often observed, is more rare – proximal. Both symmetric, and unilateral options are widespread. Also congenital amputations can be combined with other sindromologichesky malformations and their characteristic manifestations. For example, at Möbius's syndrome paresis VI and VII pairs of craniocereberal nerves and a mikrognatiya is observed, at Hankhart's syndrome the hypoplasia (or an aplaziya) language comes to light and the hypoplasia of the lower jaw, at Charlie's syndrome of M is noted a gipertelorizm, a gipodontiya and a sindaktiliya.
Diagnostics and treatment of congenital amputations
Post-natal diagnostics of congenital amputations is possible – anomalies of a structure of extremities or their absence are defined visually at primary survey of the newborn. Collecting anamnestichesky data helps the pediatrician and a neonatologa to establish a possible etiology. At detailed fizikalny survey of the child pay attention to other possible malformations which can indicate a sindromologichesky nosology. Laboratory analyses at congenital amputations are carried out as the standard measures for the purpose of evaluation of the work of bodies and systems of the child and an exception of other diseases. Among tool methods of a research the X-ray analysis, a computer and magnetic and resonant tomography is used. They are applied at suspicion of the combined malformations, damages of internals.
Treatment, per se, at congenital amputations is absent. In pediatrics at the isolated forms with the only therapeutic measures kept by bone segments there can be repeated reamputation of extremities since the bone grows quicker than other fabrics and can cause a stump travmatization. Further to such children individual artificial limbs are selected, include patients in programs for rehabilitation and adaptation of disabled people to social life. At the combined forms of congenital amputations besides the above-mentioned plastic and reconstructive surgeries, and also the situational medical and rehabilitation actions depending on the available malformations can be performed.
Forecast and prevention of congenital amputations
The forecast for life at simple congenital amputations favorable. In most cases other bodies and systems of patients develop according to age norms, mental development suffers seldom. The forecast at sindromologichesky forms of congenital amputations directly depends on the present syndrome. Irrespective of option of congenital amputation, children with such pathology become disabled group since in further life their working capacity, ability to self-service or movement are limited. The specific group is appropriated to each child individually according to the decision of regional medico-social commissions of experts.
Specific prevention of congenital amputations it is not developed. Nonspecific measures mean an exception of all potentially possible etiologichesky factors. Antenatalny protection of a fruit includes full refusal of mother of alcohol intake, drugs and tobacco products, early diagnostics and treatment of TORCH infections, minimization of psychoemotional and physical activities, reception of medicines only on doctor's orders with observance of the ordered dosages. An important role is played by obstetric ultrasonography which gives the chance to identify congenital amputations already in the first half of pregnancy. At suspicion of sindromologichesky pathologies and in the presence of anamnestichesky data which can indicate the hereditary nature of a disease amniocentesis or with further a kariotipirovaniye is shown.