Genetic study of multiple congenital contractures [Arthrogryposis Multiplex Congenita]

ABSTRACT

This work was carried out to study different conditions with arthrogryposis and their mode of inheritance that would allow proper diagnosis, management and appropriate genetic counseling. The study included 30 patients with arthrogryposis attending the Genetic Clinic, Medical Research Institute, Alexandria University. The frequency of parental consanguinity was 50%. An abnormal pregnancy history was found in 22 cases. Both upper and lower limb affections were noticed in twenty-eight patients, while isolated upper limb affection occurred in one case and isolated lower limb affection in one case. Finger joints were the most commonly affected. It was concluded that the examination of all joints in the upper and lower limbs is the key of diagnosis in the majority of cases of arthrogryposis. There is a marked inter- and intra-familial variability in many conditions with arthrogryposis. An accurate diagnosis is important in genetic counseling, prevention, management and prognosis