Öz
Aim The aim of our report is to describe the most common features and some of the associated complications of TCS and to report the involved genetic mutations that lead to this disorder.
Case Report Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, malar and mandibular hypoplasia which could lead to respiratory distress. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Moreover, TCS patients may require additional psychological care to avoid being rejected by society.
Discussion Treacher Collins syndrome (TCS) is one of the rare genetic disorders characterized by symmetrical craniofacial malformation without affecting the growth or neurological development. This autosomal dominant disorder has a variable degree of phenotypic expression.
Conclusion PTreacher Collins syndrome is rare and a complex congenital disorder with a variable degree of craniofacial deformity. It does not associate neurodevelopmental impairment. Patients usually suffer from social distancing and failure to integrate properly with the socitey due to their physical appearance. Taking care of these patients requires a multidisciplinary team and a reconstructive treatment is important for their social and psychological wellbeing.
Anahtar Kelimeler
Dentistry Franceschetti-Zwahlen-Klein Syndromegenetic syndrome Mandibulofacial dysostosis Syndromes Treacher Collins syndrome
Kaynakça
- Chang CC, Steinbacher DM. Treacher Collins syndrome. Semin Plast Surg. 2012;26:83-9
- Teber OA, Gillessen-Kaesbach G, Fischer S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004;12:879–890
- Kasat V. Franceschetti syndrome. Contemp Clin Dent. 2011 Jul-Sep; 2(3): 245–248.
- Klimen G.R. Treacher Collins syndrome: Report of a case. A.S.D.C.J. Dentistry for Children 1979;46:134,.
- Poswillo D. The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol. 1973 Mar;35(3):302-28.
- Roa N L, Moss KS. Treacher-Collins syndrome with sleep apnea: anesthetic considerations. Anesthesiology. 1984 Jan;60(1):71-3.
- Plomp RG, van Lieshout MJ, Joosten KF, et al. Treacher Collins syndrome: A systematic review of evidence-based treatment and recommendations. Plast Reconstr Surg. 2016;137:191204.
- Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J. 2000;37(5):434.
- Katsanis SH, Jabs EW. Syndrome de Treacher Collins. 20 juillet 2004 [Mise à jour le 20 août 2020]. Dans:In: Adam MP, Mirzaa
- Conte C, D’Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Nouvelles mutations du gène TCOF1 chez des patients européens atteints du syndrome de Treacher Collins. BMC Med Genet. 2011;12:125.
- Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, et al. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity. Clin Genet. 2023 Feb;103(2):146-155.
- Rovin S, Dachi SF, Borenstein D, Cotter WB. MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS. J Pediatr. 1964 Aug;65:215-21.
Öz
Kaynakça
- Chang CC, Steinbacher DM. Treacher Collins syndrome. Semin Plast Surg. 2012;26:83-9
- Teber OA, Gillessen-Kaesbach G, Fischer S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004;12:879–890
- Kasat V. Franceschetti syndrome. Contemp Clin Dent. 2011 Jul-Sep; 2(3): 245–248.
- Klimen G.R. Treacher Collins syndrome: Report of a case. A.S.D.C.J. Dentistry for Children 1979;46:134,.
- Poswillo D. The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol. 1973 Mar;35(3):302-28.
- Roa N L, Moss KS. Treacher-Collins syndrome with sleep apnea: anesthetic considerations. Anesthesiology. 1984 Jan;60(1):71-3.
- Plomp RG, van Lieshout MJ, Joosten KF, et al. Treacher Collins syndrome: A systematic review of evidence-based treatment and recommendations. Plast Reconstr Surg. 2016;137:191204.
- Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J. 2000;37(5):434.
- Katsanis SH, Jabs EW. Syndrome de Treacher Collins. 20 juillet 2004 [Mise à jour le 20 août 2020]. Dans:In: Adam MP, Mirzaa
- Conte C, D’Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Nouvelles mutations du gène TCOF1 chez des patients européens atteints du syndrome de Treacher Collins. BMC Med Genet. 2011;12:125.
- Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, et al. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity. Clin Genet. 2023 Feb;103(2):146-155.
- Rovin S, Dachi SF, Borenstein D, Cotter WB. MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS. J Pediatr. 1964 Aug;65:215-21.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Diş Hekimliği |
| Bölüm | Case Reports |
| Yazarlar | |
| Yayımlanma Tarihi | 20 Aralık 2023 |
| Gönderilme Tarihi | 23 Mart 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 1 Sayı: 3 |
