Congenital amputation
Last reviewed: 23.04.2024
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Congenital amputations are transverse or longitudinal limb defects associated with primary growth impairment or secondary intrauterine destruction of normal embryonic tissues.
Congenital amputation is the absence of a limb or part of it at birth. Etiology often remains unknown, but the known causes are teratogens (eg, thalidomide) and amniotic constrictions.
With transverse defects, all elements normally located below a certain level are missing, and the limb resembles an amputation stump. For example, with proximal femdom focomelia, the proximal femur and acetabulum do not develop; the degree of defect may vary. Longitudinal amputations include characteristic reduction disorders of development (for example, complete or partial absence of radius, fibular or tibia). They can develop as a part of syndromes, for example VACTERL [previously VATER: vertebral anomalies, atresia of the anus, heart defects, tracheoesophageal fistula, renal anomalies, limb abnormalities (eg, aplasia of the radius)]. In children with transverse or longitudinal reduction defects, hypoplasia or splitting of bones, synostosis, doubling, dislocation, and other bone defects can also be noted. One or more limbs may be affected, while the type of defect may be different on different limbs. Anomalies of the CNS are rare. Radiography is necessary in order to establish which bones are affected.
Treatment consists predominantly of prosthetics, which is of greatest importance in any congenital amputation of the lower extremities or with completely or partially absent upper limbs. If any motor activity in the hand or hand is retained, regardless of how severe the abnormality is, the functional reserve should be carefully examined before prosthetics or surgery are recommended. The therapeutic amputation of any limb or part of it should be recommended only after evaluating the functional and psychological significance of the loss and if this is necessary for prosthetics.
The prosthesis of the upper limb should be designed in such a way as to perform the greatest possible number of functions so that the number of auxiliary devices can be minimized. Children use the prosthesis most successfully when prosthetics are carried out early and the prosthesis becomes an integral part of their body during development. Apparatus used in infants should be as simple and inconspicuous as possible, such as a hook, not a bio-electric arm. With effective orthopedic and supportive support, most children with congenital amputations lead a normal life.
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