Beals syndrome, also known as congenital contractural arachnodactyly (CCA), 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 [1, 2].
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.
We present a case of a 13-year-old boy who has a medical history of Beals syndrome, diagnosed in 2000 at the age of 2 years.
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.
It was initially thought that Beals syndrome, unlike Marfan syndrome, is not associated with ocular or cardiac abnormalities, but some reports have recently shown that serious cardiac abnormalities can occur in CCA .
An association between Beals syndrome and a predisposition to long bone fracture is not documented in the literature.
* To our knowledge there is no described increased incidence of fractures associated with Beals syndrome