X Fragile Syndrome: brief review and case report

Abstract

X Fragile Syndrome is pointed as the greatest cause of inherited mental retardation, and the second most common genetic cause of mental retardation. It reaches all ethnic groups and races, but with low prevalence. It is estimated that one on every 1000 male births carries the syndrome and that one on every 2000 female born alive is affected. Although not specific, numerous physical and cognitive changes may be related to the syndrome, such as mental deficiency, facial dysmorphism and behavioral changes. This study aimed to briefly review the available literature about X Fragile Syndrome and present a case report of a newborn diagnosed with the disease. Thus, Brazilian databases were consulted and, to assist in the diagnosis of other individuals who may have the syndrome, an ethics committee approved the clinical report in order to bring public initial symptomatology, clinical exams and evolution of a patient with X Fragile Syndrome. It is necessary to acquire the syndrome’s diagnosis as soon as possible, since it has no cure and the treatment consists of improving and prolonging the quality of life of the affected patient. Genetic counseling is also indicated in most cases to prevent further onset of the syndrome.

Keywords: Martin-Bell syndrome. Review. Medical records.