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Treacher Collins syndrome
Prachi Shete1, Jv Tupkari, Tabita Benjamin
1Departments of Oral Pathology and Microbiology, Government Dental College and Hospital, Mumbai, India.
Journal of Oral and Maxillofacial Pathology : JOMFP
|December 7, 2011
Summary
Treacher Collins syndrome (TCS) is a rare genetic disorder affecting craniofacial development. This article presents a case study of a 20-year-old male diagnosed with TCS.
Area of Science:
- Genetics
- Developmental Biology
- Craniofacial Surgery
Background:
- Treacher Collins syndrome (TCS) is an autosomal dominant disorder.
- It involves congenital malformations of the first and second branchial arches.
- TCS impacts the development of facial structures, including ears, eyelids, cheekbones, and jaws.
Observation:
- This article details a clinical case of a 20-year-old male patient.
- The patient presented with characteristic features of Treacher Collins syndrome.
- The presentation highlights the variability in facial deformity extent.
Findings:
- The case illustrates a typical presentation of Treacher Collins syndrome.
- Diagnostic confirmation of TCS in the described patient.
- Observation of the specific craniofacial anomalies in the affected individual.
Implications:
- Understanding the phenotypic variability of Treacher Collins syndrome.
- Informing clinical diagnosis and management strategies for TCS patients.
- Contributing to the broader knowledge of branchial arch developmental disorders.
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