394 - Beals Syndrome Affecting a Three-Year-Old: A Case Report

Introduction:

 Beals syndrome is a rare autosomal dominant connective tissue disorder caused by a mutation in the fibrillin-2 gene (FBN2) on chromosome 5q23. FBN2 codes for the fibrillin-2 protein that plays a role in assembling elastic fibers for bone formation and function. Beals Syndrome is characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.  The incidence and prevalence of Beals syndrome are unknown as Beals syndrome is phenotypically very similar to Marfan syndrome.

Case Report:                                                                          

A 3-year 8-month-old female patient presented to her dental home at Stony Brook Dental Care Center (Stony Brook, NY) for a periodic dental evaluation.  Due to presence of contractures at birth, the patient was genetically tested and diagnosed with Beals syndrome confirming a spontaneous mutation in the FBN2 gene with no family history of Marfan syndrome. The patient presented non-ambulatory with both endotracheal and gastrostomy tubes and history of thoracic rod placement along with medical history positive for aortic root and pulmonary artery dilation as well as kyphoscoliosis.  This report will include the patient’s clinical findings as well as a comprehensive description of Beals Syndrome and treatment considerations.