A rare presentation of Beals syndrome; a newly recognized connective tissue disorder

[摘要] Beals syndrome is an autosomal-dominant connective tissue disorder, similar in many respects to Marfan syndrome, characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. This relatively new syndrome contrasted with Marfan by much less incidences of eye and heart anomalies and the congenital presence of contractures. It was found by Beals and Hecht in 1972 when they identified 2 cases of Beals syndrome; it was also thought that the original case described by Marfan in 1896 was actually a case of contractural arachnodactyly rather than a case of Marfan syndrome. Beals syndrome has distinct features, however, and is caused by a mutation in the fibrillin-2 gene (FBN2) in 5q23; Marfan syndrome is caused by mutations in fibrillin-1. We present a case of a patient with Beals syndrome who presented to the emergency department with a history of fractures; and on this presentation with a fracture of the distal tibia and fibula. To our knowledge, this is not documented in the literature and is a characteristic not documented in relation to Beals syndrome.

[学科分类] 传染病学

[关键词] Beals syndrome;Beals-Hecht syndrome;congenital contractural arachnodactyly (CCA);distal arthrogryposis;type 9(2)