Arthrogryposis and congenital absence of the anterior cruciate ligament: a case report.

Abstract

Arthrogryposis is a non-progressive disorder with congenitally soft tissue contractures affecting two or more joints. It can be sporadic, or inherited in an autosomal dominant or recessive fashion. Typically, in the upper limb, the shoulder is in adduction and internal rotation, the elbow is in extension with a lack of skin crease, and the wrist is in flexion with ulnar deviation. In the lower limb, the hip is in flexion, abduction and external rotation, the knee is contracted, with resistant clubfoot and congenital vertical talus. We report a case of a man and his son with a new form of autosomal dominant arthrogryposis associated with congenital absences of the anterior cruciate ligament. This manifestation of arthrogryposis has not been described previously.