Purpose or Case Report: The objective of this review is to summarize the earliest radiological findings of AMC (arthrogryposis multiplex congenital), detail the most frequently affected joints, identify associated syndromes, and expose the radiological findings in children whose therapy was delayed.
Methods & Materials: From December 2013 to May 2019, 171 children with AMC were treated at our facilities. We've reviewed clinical notes, laboratory data, radiological exams, and surgeries performed. The first consultation average was 4.9 years. Patients ages ranged from neonates to 18-year-olds, being 14-year-olds the average. A higher incidence was seen in males, with a ratio of 2:1. Other syndromes have also been associated with this entity. In our findings, we were able to identify 15 different associated syndromes.
Results: Arthrogryposis is characterized by multiple joint contractures in dorsal muscles and limbs starting in newborns, which limit the movement of at least 3 different joints. Histologic examination shows muscle degeneration and disorganization of myofibrils, which are replaced by fibrous and fatty tissues.
The earliest radiological findings in our research were echinus varus foot and congenital hip dislocation, in accordance with the literature. Other compromised areas included knees (with hyperextension and high patella), lower limbs (with tubular aspect), dislocated wrists and hands with digital flexion and retraction, semi-flexed elbows, scoliosis, and dolichocephaly.
Osteopenia, lower limb deformity, degenerative signs, and joint incongruities were identified in patients with late therapy onset.
Conclusions: The role of radiological images is fundamental for a detailed description of these alterations, which allow early diagnosis and favor an integral evaluation in order to improve these children's life quality and their environment.