Treacher-Collins Syndrome: Case Reports with Familial Occurance
Abstract
Treacher-Collins syndrome is an autosomal dominant congenital disorder characterised by a range of features involving the underdevelopment of zygomatic complex, cheekbones, jaws, palate, and mouth. Others may present with malformation of the eyes including a downward slant of the opening between upper and lower eyelids and anomalies of the external and middle ear. Individuals diagnosed with TCS are considered at high risk for OSA due to micrognathia. This article presents a case report of two sisters who exhibited similar but varying presentations in terms of severity and aberrations.
References
Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009 Mar; 17(3):275-83. doi: https://doi.org/10.1038/ejhg.2008.221
Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol. 2009 Jun; 41(6):1229-32. doi: https://doi.org/10.1016/j.biocel.2008.10.026
Conte C, D’Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet 2011;12:125; doi: https://doi.org/10.1186/1471-2350-12-125
Kothari P. Treacher Collins syndrome – A case report. Webmed Central Dent 2012;3(1):WMC002902; doi: https://doi.org/10.9754/journal.wmc.2012.002902
Geirdal, A.Ø., Øverland, B., Heimdal, K. et al. Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome. Eur Arch Otorhinolaryngol 270, 2879–2884 (2013). https://doi.org/10.1007/s00405-013-2409-0
Akre H, Øverland B, Åsten P, Skogedal N, Heimdal K. Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol. 2012 Jan; 269(1):331-7. doi: https://doi.org/10.1007%2Fs00405-011-1649-0
Plomp RG, Joosten KF, Wolvius EB, Hoeve HL, Poublon RM, van Montfort KA, Bredero-Boelhouwer HH, Mathijssen IM. Screening for obstructive sleep apnea in Treacher-Collins syndrome. Laryngoscope. 2012 Apr; 122(4):930-4. doi: https://doi.org/10.1002/lary.23187
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R. Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes (Basel). 2021 Sep 9; 12(9):1392. doi: https://doi.org/10.3390/genes12091392