Síndrome de Treacher Collins: relato de um caso

Abstract

OBJECTIVE: To report a case of Treacher Collins syndrome occurred in a neonatal intensive care unit in a high-risk maternity, comparing with the existent literature about this syndrome. CASE DESCRIPTION: Female patient, 11 months old, presenting at birth bilateral downward slanting palpebral fissures (“antimongoloid slanting”), malar and mandibular hypoplasia bilateral malformation of the ear and anatomical defects affecting bilaterally the external auditory canal, clinically characterizing the Treacher Collins syndrome. The patient have got respiratory infections and required mechanical ventilation during hospitalization. There was no family history of the syndrome. CONCLUSION: The findings of this report are in agreement with literature data.