TREACHER COLLINS SYNDROME: A RARE CASE REPORT

PURPOSE: To present a case of Treacher Collins syndrome. METHODS: A 7 days-old girl child with eye and facial disfiguration since birth was examined and managed conservatively. RESULTS: The presenting symptom of the patient was eye and facial disfiguration. she had sunken appearance of the face, with abnormally wide fish like mouth (macrostomia), depressed nasal bridge, parrot beak nose, malar hypoplasia with an anti mongoloid slant with associated micrognathia, glossoptosis, and high arched palate with cleft palate. On ocular examination, there was notching of lower eyelid, downward slanting eyes, complete absence of lower eyelid lashes. The patient was managed conservatively with nutritional support through nasogastric tube feeding, parenteral antibiotics and eye drops. During discharge, necessary counseling was done with an advice to have a regular follow up for further treatment of hearing loss and reconstructive surgery of facial anomalies. CONCLUSION: We are reporting this case of Treacher Collins syndrome baby, with no family history, presenting with the typical orofacial implications of this syndrome.