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 [2-4].
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.
He was diagnosed formally to have Beals syndrome after review by a geneticist.
Although Marfan syndrome has been recognized for more than a century, Beals syndrome has only recently been accepted as a distinct entity because its features are quite similar to Marfan syndrome.
Eye anomalies and joint laxity are commonly found in Marfan syndrome [2-4], whereas they are very rare in Beals syndrome [2].
