Abstract:
Seckel syndrome, it's rare condition of autosomal recessive hereditary nature of, characterized by severe growth retardation, intrauterine, proportionate short stature, microcephaly with small and weak chin, nose large and curved, in some cases mental retardation, multiple congenital anomalies in the face skull and skeleton, among other malformations. The aim of this study was to identify the phonological manifestations found in this syndrome, from a clinical case report. The assessment speech that addressed: physical description, aspects of stomatognathic functions, the oral and written language, speech and hearing, and cognitive aspects. To complement the speech diagnosis, orthodontic evaluations were performed, otorhinolaryngology and physical therapy. With respect to stomatognathic functions, the child had breathing so oral, chewing with the teeth hold food side, unilateral mastication, with parted lips and exaggerated movements of the perioral muscles, swallowing with tongue interposition and participation of the orofacial muscles. Speak with imprecise articulation and locked due to limited mouth opening. Regarding the voice, the patient had reduced maximum phonation time, high larynx position, nasal resonance, vocal attacks soft and weak intensity. It was not observed any change in oral and written language. The scarcity of studies reporting on phonological manifestations of Seckel syndrome associated with the rarity of occurrence, justifies the interest in performing this study, to collaborate more knowledge on the part of speech therapists and health professionals.
Keywords:
Speech, Language and Hearing Sciences; Evaluation; Diagnosis