Arthrogryposis multiplex congenita as part of an inherited symptom complex: two case reports and a review of the literature.
Two first cousins appear to have an autosomal recessive disorder consisting of arthrogryposis multiplex congenita (AMC), pterygium coli, congenital cervical spine fusions, and some features of the Eagle-Barrett syndrome. A review of the literature is summarized including the broad concepts of AMC as well as some syndromes in which AMC is but one manifestation.
D001176:Arthrogryposis / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011625:Pterygium / Q000150:complications