Arthrogryposis multiplex congenita: analysis of twelve cases

The term arthrogryposis multiplex congenita (AMC) refers to multiple joint contractures present at birth. AMC is not a specific disorder but is the consequence of neurological, muscular, connective tissue, and skeletal abnormalities or intrauterine crowding, which may lead to limitation of fetal joint mobility and the development of contractures.

Cases referred to our perinatology department for detailed examination were retrospectively analyzed.

Twelve cases with AMC were detected during the antenatal period. The ultrasound features related to the "lack of movement" included limb abnormalities (multiple contractures, clenched hands, and clubbed feet), short umbilical cord, polyhydramnios, pulmonary hypoplasia, camptodactyly, and micrognathia. Five of the early detected cases (71%) were found to have increased nuchal translucency or nuchal fold. All of the cases at the third trimester resulted in neonatal death.

First trimester screening may be useful for early diagnosis of AMC. Sonographic findings in late pregnancy might be helpful in predicting the prognosis. Due to the high recurrence risk, a specific screening program should be performed for the following pregnancies by examination of the fetus several times for movement and position of the limbs.