IN this week's trip to Temple Street Children's University Hospital, we meet long-term patient Thomas Fleming who was born with Beals 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 [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 .
The differential diagnosis was either severe neonatal MFS, or Beals syndrome.
A very small minority have specific genetic disorders such as the Beals syndrome (congenital contractural arachnodactyly (MIM 121050)) or the Shprintzen-Goldberg syndrome (MIM 182212).
Careful examination of the infant and a detailed history from his mother indicated that they were both affected by Beals syndrome (congenital contractural arachnodactyly).
Key Words: congenital contractural arachnodactyly, Beals syndrome, "crumpled ear," fibrillin-2 protein
This history and physical indicated that Beals syndrome, also known as congenital contractural arachnodactyly (CCA), affected them both.
Cross-referencing these anomalies with the index in Smith's Recognizable Patterns of Human Malformations indicated Beals syndrome as the likely cause.