Skip to Main Content

++
KEY POINTS
++

Key Points

  • Descriptive term that refers to the presence of congenital contractures in two or more joints. Does not necessarily represent a syndrome but is a compensatory connective tissue response.

  • Causes include abnormal muscle tissue, abnormal nerve function, abnormal connective tissue, and mechanical limitation of fetal movement.

  • Incidence is 1 in 3000 livebirths.

  • Sonographic findings include malpositioned limbs, limited fetal movements, hypoechogenicity of long bones. May be associated with increased nuchal translucency, polyhydramnios, and cystic hygroma.

  • Differential diagnosis includes more than 150 conditions. Amyoplasia is the most common. Chromosome abnormalities are unlikely, but should consider trisomy 18 and mosaic trisomy 8.

  • Examine both prospective parents for signs of distal arthrogryposis, which is dominantly inherited and associated with 10 conditions.

  • Treatment of newborn focuses on whether only limbs are affected or if there are abnormalities of nervous or muscular systems.

  • Treatment for isolated joint abnormalities begins with plaster casts in newborn period. Surgery, if performed, occurs at 3 to 12 months.

++
CONDITION
++

The termarthrogryposis, amixture of Latin and Greek words, means curved or crooked joint (Hageman et al., 1988). This term was first used in 1923 by Stern. The first medical description of arthrogryposis occurred in 1841, when Otto described an infant with multiple congenital contractures and referred to the condition as “congenital myodystrophy” (Swinyard and Bleck, 1985).

++

Arthrogryposis refers to a symptom complex characterized bymultiple joint contractures that are present at birth. The muscles in the affected area or areas are replaced by fat and fibrous tissue (Shapiro and Specht, 1993). Although the term arthrogryposis is in wide use, the preferred descriptive term is multiple congenital contractures. These contractures do not represent a syndrome but a compensatory connective tissue response (Swinyard and Bleck, 1985).

++

Clinical features of arthrogryposis include rigidity of several joints, resulting from short, tight muscles and capsular contractures, dislocation of joints, “featureless” extremities (normal skin creases are absent and there is an increase in the amount of subcutaneous fat), presence of deep skin dimples in the vicinity of affected joints, absence or fibrosis of muscles, and normal intellectual development (Williams, 1978).

++

According to Hall (1981), the term arthrogryposis multiplex congenita was coined to describe infants with multiple congenital contractures. Confusion has arisen because the term was used as a diagnosis. The term is descriptive, and the presence of congenital contractures only indicates a clinical sign with multiple underlying causes. In general, anything that decreases intrauterine movement may lead to limitation of joint movement and the subsequent formation of contractures. The earlier in development it occurs and the longer the duration of limitation of movement, it will result in more severe contractures at birth.

++

There are four major causes of congenital contractures (Hall, 1981):

++

  1. Abnormal muscle tissue: Examples of this are muscular dystrophy, congenital ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.