Arthrogryposis multiplex congenita

Abstract

Arthrogryposis multiplex congenita [AMC] is the occurrence of multiple joint contractures at birth. AMC is no more than a nonspecific symptom complex caused by a number of underlying mechanisms. This anomaly may result from neurologic deficit, neuromuscular disorders, connective tissue abnormalities, amniotic bands, or fetal crowding. Central nervous system or neuropathic abnormalities are the most common cause. The prenatal diagnosis is based on the abnormal fetal movement profile in association with an abnormal position of the fetal limbs. Three dimensional ultrasonography can serve as a useful technique for the diagnosis of AMC. According to the in utero time of onset of the pathology, the severity of the phenotype varies from a severe, generalized AMC in the early-onset group to milder defects, as isolated distal arthrogryposis in the late-onset group. At early second trimester the increased nuchal translucency might be an important sign. AMC secondary to a neuropathic lesion may not be sonographically visible until after 20 weeks, as neurogenic atrophy typically manifests late in gestation and is often progressive. Most of the cases which were diagnosed after the second trimester have polyhidramnios and fetal hydrops. The pathological cardiotocography might also led to the prenatal suspicion of AMC. All of these fetuses die either intrauterine or in the neonatal period. Polydramnios developes because of swallowing difficulties, and pulmonary hypoplasia probably due to absent or decreased fetal respiratory activity. The diagnosis of AMC should be considered in a third trimester fetus with sonographically detected osteopenia. AMC is known to be a predominant sign in over 150 syndromes. There are several similarities between trisomy 18 phenotype and some of the syndromes related with AMC. Therefore, fetal karyotyping is necessary in order to reach a definite diagnosis.The prognosis depends on the specific etiology of the contractures, but in only one half of the cases the specific diagnosis could be made. In following pregnancies of the mothers with positive history of related syndromes, serial follow-up scans should be performed until the end of the second trimester before reassuring about the normality of the fetus. In this paper we want to review the literature and present the pictures of our cases. © 2010 Nova Science Publishers, Inc. All rights reserved.