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INTRODUCTION

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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.

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DISTURBANCES OF PRENATAL ORIGIN

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ESSENTIALS OF DIAGNOSIS & TREATMENT

  • Conditions are present at birth.

  • Multiple organ systems may be involved.

  • Treatment is aimed at maximizing function.

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CONGENITAL AMPUTATIONS & LIMB DEFICIENCIES

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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, such as absence of the femur, tibia, or fibula, have a high incidence of other congenital anomalies, including genitourinary, cardiac, and palatal defects. Deficiencies 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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Treatment
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Limb lengthening and/or contralateral limb shortening can be used to treat less severe deficiencies. More severe deficiencies are treated with a prosthesis 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.

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Typically, a lower extremity prosthesis would be fit at about 1 year of age 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 benefits from the use of a passive mitten type prosthesis starting as early as 6 months of age. Early fitting has the advantage of instilling an accustomed pattern of proper length and bimanual manipulation. Although myoelectric prostheses have a technologic appeal, the majority of patients find the simplest construct to be the most functional. Children quickly learn how to function with their prostheses and can lead active lives.

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Gold  NB, Westgate  MN, Holmes  LB: Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet Part A 2011;155:1225–1235
[PubMed: 21557466] ...

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