Treacher Collins Syndrome: A Case Report

Abstract

Treacher collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant inherited disorder with variable expressivity. It affects mainly craniofacial structure that derives from 1st and 2nd branchial arches approximately between the 20th day and 12th week of intrauterine life. This syndrome has different clinical types. Most common features are antimongoloid slanting of the palpebral fissures, hypoplasia of zygoma, maxilla & mandible with various eye and ear abnormalities. Here we present a case of an 11 days old female neonate, who was ill looking, dyspnoeic having significant facial profile, multiple congenital anomalies and dolicocephaly; admitted in the department of Neonatology, Mymensingh Medical College Hospital (MMCH), Mymensingh, Bangladesh on 7th August 2020. After taking all the diagnostic assistance of the multidisciplinary approach mainly on the basis of clinical features and radiology we diagnosed the case as TCS. We managed the patient by maintaining temperature, giving nutritional support and injectable antibiotic, took consultation from Otolaryngology department then we discharged the baby with proper counseling, advised regarding further follow up and to consult with paediatric surgeon and cardiologist.