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Related Experiment Video

Updated: Nov 9, 2025

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Treacher Collins Syndrome: A Case Report.

A Jahan1, M N Islam, M Akhter

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|April 8, 2021
PubMed
Summary

Treacher Collins syndrome (TCS) is a rare genetic disorder affecting craniofacial development. This case report details the diagnosis and management of an 11-day-old neonate with TCS.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

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Background:

  • Treacher Collins syndrome (TCS), also known as Franceschetti syndrome, is an autosomal dominant inherited disorder.
  • It primarily impacts craniofacial structures derived from the first and second branchial arches during early fetal development.
  • Common manifestations include antimongoloid slanting of palpebral fissures, hypoplasia of the zygoma, maxilla, and mandible, along with ocular and auditory abnormalities.