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Case Report
Treacher Collins syndrome: A case report
1 Radiology Department, Childrens’ Hospital, Ibn Sina University Hospital, Rabat, Morocco
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Aïda Saoud
Hopital d’Enfants de Rabat, CHU Ibn Sina, Rabat,
Morocco
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Article ID: 101180Z01AS2020
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Saoud A, Taïbi B, El Farouki A, Chat L, El Haddad S, Allali N. Treacher Collins syndrome: A case report. Int J Case Rep Images 2020;11:101180Z01AS2020.ABSTRACT
Introduction: Treacher Collins syndrome (TCS) is a congenital craniofacial morphogenesis disorder of autosomal dominant inheritance, which symptoms vary greatly ranging from almost unnoticeable to severe. The most common clinical features include hypoplasia of the malar bones and the lower jaw, antimongoloid slanting of palpebral fissures, and ear abnormalities. Imaging, especially computed tomography (CT), enables both a quantitative and qualitative analysis of the malformations, allowing the diagnosis and the planning of surgical interventions.
Case Report: We report a case of a fully expressed Treacher Collins syndrome in a 3-month-old male child brought by his mother for dental malocclusion causing difficulties in breastfeeding. The examination revealed hypertelorism with antimongoloid slanting of palpebral fissures, hypoplasia of the malar and zygomatic bones, the mandible, and a microtia with no external auditory canal identified. The CT of the facial area revealed bilateral and symmetrical hypoplasia of the zygomatic bones, the mandible, the maxillary bones, and the temporal bone with agenesis of the bony external auditory canals.
Conclusion: Treacher Collins syndrome is a malformative craniofacial congenital disorder that can be well managed if the diagnosis is done early.
Keywords: Facial malformation, Mandibulofacial dysostosis, Treacher Collins syndrome
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Author Contributions
Aïda Saoud - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Final approval of the version to be published
Basma Taïbi - Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Aymane El Farouki - Acquisition of data, Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Latifa Chat - Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Siham El Haddad - Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Nazik Allali - Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2020 Aïda Saoud et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
