Treacher Collins syndrome: a case review

Area of Science:

• Genetics
• Developmental Biology
• Medical Case Study

Background:

• Treacher Collins syndrome is a rare autosomal dominant disorder affecting craniofacial development.
• It results from mutations in the TCOF1 gene, located at 5q32-33.1.
• The syndrome exhibits wide expressivity, complicating diagnosis in mild cases.

Observation:

• This report details a term female infant diagnosed with Treacher Collins syndrome.
• The infant also presented with a concurrent diagnosis of Tracheal Esophageal Fistula.
• Despite expected normal intelligence, conductive hearing loss poses a risk for developmental delay.

Findings:

• The case illustrates the diagnostic challenges associated with variable expressivity in Treacher Collins syndrome.
• Co-occurrence of Treacher Collins syndrome and tracheoesophageal fistula is noted.
• The patient's hospital course and outcomes are documented.

Implications:

• This case provides valuable insights for clinicians managing Treacher Collins syndrome.
• It underscores the importance of early recognition and intervention for associated conditions like hearing loss and developmental delay.
• Guidance is offered for healthcare providers in supporting affected families.