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Orthopedics is the medical discipline that deals with disorders of the musculoskeletal system. Patients with orthopedic problems generally present with one or more of the following complaints: pain, swelling, loss of function, or deformity. While the history reveals the patient’s expectation, physical examination and radiographic imaging are vitally important features of orthopedic diagnosis.



  • Conditions are present at birth (congenital).

  • Multiple organ systems may be involved.

  • Treatment is aimed at maximizing function.


Clinical Findings

A. Symptoms and Signs

The specific etiology of many congenital amputations is not clear, but a genetic association has been suggested. Some congenital amputations may be due to teratogens (eg, drugs or viruses), amniotic bands, or metabolic diseases (eg, maternal diabetes). Limb deficiencies are rare with an overall prevalence for all types of limb deficiencies of 0.79 per 1000. The most common cause of limb deficiencies is vascular disruption defects (prevalence of 0.22 per 1000). As a group, upper limb deficiencies occur more frequently than lower limb deficiencies, but the single most frequent form of limb deficiency is congenital longitudinal deficiency of the fibula. Children with congenital limb deficiencies generally also have a high incidence of other congenital anomalies, including genitourinary, cardiac, and palatal defects. Deficiencies have a wide spectrum, ranging from mild limb length discrepancy to significant deformity. They usually consist of a partial absence of structures in the extremity along one side. For example, in radial club hand, the entire radius is absent, but the thumb may be either hypoplastic or completely absent. The effect on structures distal to the deficiency varies. Complex tissue defects are virtually always associated with longitudinal bone deficiency since associated nerves and muscles are not completely represented when a bone is absent.


The overall goal of treatment is to achieve a functional extremity. If the deficiency is in a weight-bearing limb, the goal is to ensure equal loading after treatment. Limb lengthening and/or contralateral limb shortening or guided growth (epiphysiodesis, which tethers or slows the growth of one limb while the other limb continues to grow to equalize leg length discrepancy) can be used to treat less severe deficiencies. More severe deficiencies are treated with a prosthesis or orthosis to compensate for the length discrepancy. For certain severe anomalies, operative treatment to remove a portion of the malformed extremity (eg, foot) is indicated to allow for early prosthetic fitting. In these instances, early prosthetic fitting allows for maximization of function.

Typically, a lower extremity prosthesis would be fit as the child begins to stand, allowing the child to begin ambulation at an appropriate developmental age. The prosthesis is well accepted since it becomes necessary for balancing and walking. In unilateral upper extremity amputation, the child ...

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