Treacher-Collins Syndrome: Case Reports with Familial Occurance

Komal Kumia; Bhawna Saini; N Suriya; Harneet Singh; Ambika Gupta; Suman Bisla

doi:10.36437/ijdrd.2022.4.4.E

Komal Kumia PG Student, Department of Oral Medicine & Radiology, PGIDS, Rohtak, Haryana, India.
Bhawna Saini PG Student, Department of Oral Medicine & Radiology, PGIDS, Rohtak, Haryana, India.
N Suriya PG Student, Department of Oral Medicine & Radiology, PGIDS, Rohtak, Haryana, India.
Harneet Singh Associate Professor, Department of Oral Medicine & Radiology, PGIDS, Rohtak, Haryana, India.
Ambika Gupta Professor & Head, Department of Oral Medicine & Radiology, PGIDS, Rohtak, Haryana, India.
Suman Bisla Senior Resident, Department of Oral Medicine & Radiology, PGIDS, Rohtak, Haryana, India.

DOI: https://doi.org/10.36437/ijdrd.2022.4.4.E

Keywords: Franceschetti-Klein Syndrome, Obstructive Sleep Apnoea, Treacher Collins Syndrome

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