Síndrome de Angelman: relato de caso clínico

Resumo (EN)

Angelman syndrome is a genetic disorder scarcely known outside the field of genetic research and practice. lt is a clinically well-defined condition in which, in most cases, a small portion of chromosome 15 is missing (deletion). The disorder was first described by Harry Angelman, MD, in 1965, in a report on the case of three children. The remarkable behavioral and bhysical similarities among the clinical cases justífied classifying this condition as a syndrome. The syndrome bearers usually present symptoms commontly associated with Invasive Developmental Disorders, in addition to severe mental retardation, autistic symptoms, impaired speech or absent speaking ability, epilepsy and neuropsychomotor retardation. This article aims to present a brief review of the literature on Angelman syndrome and report the case of a patient diagnosed with the syndrome admitted for general dental treatment at the Center of Formation of Human Resources Specialized in Dental Care for Special Patients, at the School of Dentistry of Ribeirão Preto, University of São Paulo (USP).