Beal's Syndrome
Case Discussion
Beal's syndrome (OMIM # 121050) is a disorder of connective tissues. The syndrome was first explained by Beal’s and Hecht in 1971. It is inherited as an autosomal dominant disorder that is characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a genetic mutation in FBN2 gene (encoding the extracellular matrix micro fibril fibrillin 2) on chromosome 5q23. The FBN2 gene provides instructions for making a large protein called fibrillin-2. More than 20 mutations in the FBN2 gene have been found to cause Beal's Syndrome. Most of these mutations change one protein building block (amino acid) in the fibrillin-2 protein, usually replacing the amino …show more content…
Beals syndrome shares skeletal features with MFS such as marfanoid habitus, arachnodactyly, camptodactyly and kyphoscoliosis. However, Beals syndrome patients have crumpled appearance of ear helix and congenital contractures, and do not typically have the ocular and cardiovascular complications seen in MFS. Although the presence of contractures is specific for beals syndrome, molecularly proven MFS patients with mild contractures have been reported. Lens subluxation is present in approximately half of patients with Marfan syndrome and is very rare in beals syndrome, but general ocular complications are estimated to be present in 20% of patients. The most common cardiovascular complications in Marfan syndrome are dilatation of aortic root and mitral valve prolapse, whereas in beals syndrome the cardiac finding includes aortic enlargement and/or mitral valve regurgitation.The overlap in clinical features has a molecular basis. Beal's Syndrome and Marfan Syndrome result from mutations in two homologous genes, FBN2 and FBN1, which are highly similar but distinct genes situated in 5q23-31 and 15q15-21.3 chromosome,
Beal's syndrome (OMIM # 121050) is a disorder of connective tissues. The syndrome was first explained by Beal’s and Hecht in 1971. It is inherited as an autosomal dominant disorder that is characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a genetic mutation in FBN2 gene (encoding the extracellular matrix micro fibril fibrillin 2) on chromosome 5q23. The FBN2 gene provides instructions for making a large protein called fibrillin-2. More than 20 mutations in the FBN2 gene have been found to cause Beal's Syndrome. Most of these mutations change one protein building block (amino acid) in the fibrillin-2 protein, usually replacing the amino …show more content…
Beals syndrome shares skeletal features with MFS such as marfanoid habitus, arachnodactyly, camptodactyly and kyphoscoliosis. However, Beals syndrome patients have crumpled appearance of ear helix and congenital contractures, and do not typically have the ocular and cardiovascular complications seen in MFS. Although the presence of contractures is specific for beals syndrome, molecularly proven MFS patients with mild contractures have been reported. Lens subluxation is present in approximately half of patients with Marfan syndrome and is very rare in beals syndrome, but general ocular complications are estimated to be present in 20% of patients. The most common cardiovascular complications in Marfan syndrome are dilatation of aortic root and mitral valve prolapse, whereas in beals syndrome the cardiac finding includes aortic enlargement and/or mitral valve regurgitation.The overlap in clinical features has a molecular basis. Beal's Syndrome and Marfan Syndrome result from mutations in two homologous genes, FBN2 and FBN1, which are highly similar but distinct genes situated in 5q23-31 and 15q15-21.3 chromosome,