Beals syndrome (Congenital contractural arachnodactyly)
Beals syndrome Autosomal dominant disorder of the connective tissue caused by heterozygous pathogenic variants of FBN2 (fibrillin 2) Patients with congenital contractural arachnodactyly present with a marfanoid physique (eg, tall and slender body in which arm span exceeds height; arachnodactyly; progressive kyphoscoliosis) and cardiac valvular abnormalities; mild aortic dilation is rarely present Differentiate from Marfan syndrome by …
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