We report a case of a 12-year-old Filipino female with crumpled ears, arachnodactyly, camptodactyly, and congenital joint contractures, consistent with Beals syndrome. Marfan syndrome is a common differential diagnosis, since both are caused by mutations in two homologous genes, namely FBN1 and FBN2. Both syndromes share similar characteristics hence, it is essential to differentiate the two, since Marfan syndrome may develop fatal complications, not encountered in Beals Syndrome. Management of Beals syndrome is mainly supportive including physiotherapy and ophthalmologic and cardiovascular evaluation.
Beals syndrome ; Marfan Syndrome