RESUMEN
Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments. Hearing loss was detected in association with this condition.
Asunto(s)
Artrogriposis/diagnóstico , Trastornos de Deglución/diagnóstico , Cabeza/anomalías , Cuello/anomalías , Trastornos del Habla/diagnóstico , Artrogriposis/complicaciones , Trastornos de Deglución/etiología , Humanos , Lactante , Masculino , Índice de Severidad de la Enfermedad , Trastornos del Habla/etiologíaRESUMEN
RESUMO A artrogripose é uma síndrome múltipla congênita rara que se caracteriza por uma série de malformações congênitas e enrijecimento e contrações articulares e não possui caráter progressivo. Trata-se de um estudo de caso clínico, cujo objetivo é descrever a manifestação funcional relacionada à fonoaudiologia através do processo de avaliação em um caso de artrogripose em pediatria. Foi realizada uma análise do prontuário clínico de um paciente desde o nascimento, bem como uma avaliação clínica completa de investigação de disfagia pediátrica, na qual foi estabelecido o diagnóstico de disfagia orofaríngea de grau grave, apontada por alterações no exame funcional e estrutural. Associa-se ao quadro, uma perda auditiva.
ABSTRACT Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments. Hearing loss was detected in association with this condition.
