A Case of Beals Syndrome in a Filipino Child

Ma-Am Joy R. Tumulak,1 Mary Ann R. Abacan1,2 and Carmencita D. Padilla1,2

1Institute of Human Genetics, National Institutes of Health,
University of the Philippines Manila
2Department of Pediatrics, College of Medicine and
Philippine General Hospital, University of the Philippines Manila

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.

Key Words: Beals syndrome, Congenital contractual arachnodactyly, camptodactyly, FBN2 gene, Marfan syndrome