Chromosomal abnormalities associated with congenital contractures (arthrogryposis)

Publisher Website
Google Scholar
Abstract
In a study of 350 patients with multiple congenital contractures (arthrogryposis), 80 (23%) patients had mental retardation or were developmentally delayed. Out of that group of 80 patients, 13 (16%) were found to have abnormal karyotypes. Two of the 13 had a family history of chromosomal abnormalities without congenital contractures therefore, 11 patients had chromosomal anomalies which appeared to be associated with the congenital contractures. Five of the 11 (45%) had chromosome mosaicism, 3 of those had tissue mosaicism. Two had abnormal skin fibroblast cell lines and normal peripheral leukocyte chromosome studies and 1 had a normal bone marrow karyotype with abnormal peripheral leukocyte chromosome studies. Chromosome studies were done in these patients with congenital contractures because of developmental delay and multisystem involvement, or recognition of clinical features typical of a chromosomal syndrome. First lymphocyte is recommended; and if those are normal, then fibroblast studies should be done on all patients with multiple joint contractures and developmental delay, particularly if unusual facial features or multisystem abnormalities are present.