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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. Physical examination and radiographic imaging are vitally important features of orthopedic diagnosis.
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DISTURBANCES OF PRENATAL ORIGIN
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ESSENTIALS OF DIAGNOSIS & TYPICAL FEATURES
Conditions are present at birth (congenital).
Multiple organ systems may be involved.
Treatment is aimed at maximizing function.
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CONGENITAL AMPUTATIONS & LIMB DEFICIENCIES
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A. Symptoms and Signs
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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.
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The overall goal of treatment is to achieve a functional extremity. If the deficiency is in a weight-bearing limb, the treatment goal is to achieve mechanical function that is as equal as possible to the opposite side. For less severe deficiencies, methods to attain similar limb lengths include lengthening a limb using distraction osteogenesis (cutting bone and utilizing a distractor to slowly pull the two pieces of bone apart and allow healing to fill the gap created) or shortening a limb acutely or with guided growth (tethering or slowing the growth of one limb while allowing the other limb to continue to grow). More complex limb deformities may require reconstructive surgeries in coordination with lengthening procedures. During the duration of surgical and nonsurgical management, appropriate orthotic fitting is helpful to augment function. For certain severe limb differences, amputation is indicated as the child begins to stand and cruise to allow for early prosthetic fitting and a functional limb, facilitating timely ambulation in a developing child. In ...