Treacher Collins Syndrome: A Case Report

Farzana Hamid¹, Syed Moosa MA Quaium², Azizur Rahman³, AT Reza Ahmad⁴,
Abdul Ghani⁵, Shahariar Khan⁶, Tania Hussain⁷, Fatematuz Zahra⁸

1. Associate Professor, Department of Paediatrics Medicine, North East Medical College, Sylhet
2. Professor and Head, Department of Paediatrics Medicine, North East Medical College, Sylhet
3. Professor, Department of Paediatrics Medicine, North East Medical College, Sylhet
4. Associate Professor, Department of Paediatrics Medicine, North East Medical College, Sylhet
5. Assistant Professor, Department of Cardiology, North East Medical College, Sylhet
6. Resident Physician, Department of Paediatrics, North East Medical College, Sylhet
7. Registrar, Department of Paediatrics, North East Medical College, Sylhet
8. Assistant Registrar, Department of Pediatrics, North East Medical College, Sylhet

Abstract
Background: Treacher Collins Syndrome is a rare genetic disorder characterized by defective growth of craniofacial structures. Male and female are equally affected and has no race predilection.

Objective: The case was discussed with a view to recognize the common features to initiate early treatment and improve the outcome.

Result: The patient’s presenting symptoms were improved with supportive treatment and parents were advised for hearing aid and to attend regular follow up with pediatrician & paediatric cardiologist for ventricular septal defect (VSD).

Conclusion: This syndrome is often under diagnosed in mildly affected children. So, early diagnosis & treatment is very important for prevention of long term effects.

Keywords: Dysmorphic face, hearing

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