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    Journal of Pharmacology and PharmacotherapeuticsNOW IN
    Article

    Treacher Collins Syndrome: A Rare and Special Case Report of a 9-Year-Old Boy from Saudi Arabia

    Khalid AlYahya1★★ Corresponding author

    1. 1Department of Surgery, College of Medicine, King Faisal University, Al-Ahsa, Kingdom of Saudi Arabia.

    CORRESPONDENCE

    Khalid AlYahya

    Department of Surgery, College of Medicine, King Faisal University, Al-Ahsa, Kingdom of Saudi Arabia.

    kalyahya@kfu.edu.sa

    Received: 17-08-2021; Revised: 15-11-2021; Accepted: 15-12-2021.

    Volume 12, Issue 4 · pp. 186–191 · PUBLISHED 9 February 2022 · DOI: 10.4103/jpp.jpp_172_21

    View on J Pharmacol. Pharmacother. original site ↗

    ABSTRACT

    Treacher Collins syndrome (TCS) is characterized by downslanting palpebral fissures on both sides, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and jaw may make it difficult to eat and breathe. TCS, also known as Franceschetti syndrome or mandibulofacial dysostosis, is an autosomal dominant craniofacial condition with a wide range of symptoms. Edward Treacher Collins (1862-1932), an English ophthalmologist, first defined the syndrome’s fundamental characteristics in 1900. This syndrome is approximately affecting 1 in 50,000 live births with equal gender affection. In Saudi Arabia, it follows a similar pattern of prevalence. Antimongoloid slanting palpebral fissures, colobomas of the lower eyelid, hypoplasia of the zygoma and mandible, auditory microtia, conductive hearing loss, obstructive sleep apnea, and a range of orofacial abnormalities are the most prevalent clinical symptoms of TCS. In this case report, the author describes a deep-rooted analysis of the clinical features of TCS in a 9-year-old boy as well as his follow-up case. The study was conducted for a period of 9 years from birth to 9-year-old age, which makes this case report as a special rare 9-year follow-up case report from Saudi Arabia.

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      AlYahya, K. (2022). Treacher Collins Syndrome: A Rare and Special Case Report of a 9-Year-Old Boy from Saudi Arabia. Journal of Pharmacology and Pharmacotherapeutics, 12(4), 186–191. https://doi.org/10.4103/jpp.jpp_172_21