Prenatal diagnosis of amyoplasia

Abstract

Objectives. To describe ultrasound and pathomorphological signs of amyoplasia in the fetus. Materials. Sporadic case of prenatal diagnosis on second trimester ultrasound examination is presented. Prenatal diagnosis is confirmed on pathomorphological and histological examinations. Results. The ultrasound signs were contractures of the upper and lower extremities, bilateral clubfoot, akinesia, extreme cervical spinal hyperextension. The diagnosis was established by pathomorphological and histological expertise. Histological examination of the muscle tissue of the rectus femoris muscle determined the residual muscle tissue infiltrated with fat and connective tissue. Conclusions. Amyoplasia, especially its severe subtypes, can be diagnosed prenatally. The ultrasound signs were contractures of the upper and lower extremities, bilateral clubfoot, akinesia, extreme cervical spinal hyperextension. Histological examination of muscle tissue in fetuses with signs of arthrogryposis will increase the frequency of diagnosis of amioplasia