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A Possible Incomplete Form of Treacher Collins Syndrome: A Case Report
Tanmay Tarang1, Keta Vagha2, Adithya Kiran3
1Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Deemed University (DU), Wardha, IND.
Cureus
|November 16, 2022
Summary
Treacher Collins syndrome (TCS) is a rare genetic disorder affecting craniofacial development. Early diagnosis and multidisciplinary supportive care are crucial for managing this condition, which presents with varying severity.
Area of Science:
- Genetics
- Developmental Biology
- Medical Case Reports
Background:
- Treacher Collins syndrome (TCS) is a rare genetic disorder primarily caused by mutations in the TCOF1 gene.
- It impacts the development of the first and second branchial arches, leading to craniofacial abnormalities.
- TCS exhibits a wide spectrum of clinical severity.
Observation:
- A 13-year-old female presented with malaligned teeth and conductive hearing loss.
- Clinical examination revealed retrognathia, a broad nose, malaligned teeth, a high-arched palate, and midfacial hypoplasia.
- The absence of ocular involvement suggested a mild variant of TCS.
Findings:
- The patient was diagnosed with a mild variant of Treacher Collins syndrome based on clinical presentation.
- Supportive treatment was initiated for the patient's symptoms.
- The case highlights the variable expressivity of TCS.
Implications:
- Early diagnosis of TCS is essential for timely intervention.
- Multidisciplinary management involving various specialists (pediatrics, otolaryngology, audiology, orthodontics, psychology) is critical.
- Comprehensive care can significantly improve patient outcomes and quality of life.
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