Therefore, there is no plausible explanation for the significant difference between the groups for this item. Moreover, taking into account that the medians/frequencies caus- ing the statistically significant difference between the two groups are both high (cor- responding with “satisfied” vs. “very satisfied” in the controls), this indicates that clinically the patients were in fact fairly (acceptably) satisfied. It is possible that patients focus less on specific nasal subunits and their relatively subtle deformities and much more on severe deformities (such as the eyelids and ears). Also, the perceived severity of the deformity generally correlates with a patient's level of acceptance/satisfaction with their facial appearance and this is largely determined by, e.g., education level, fear of negative evaluation of appearance, and self-esteem.25-27
We suggest performing –on indication- a rhinoplasty that includes osteotomies with in-fracture reduction of the skeletal and cartilaginous dorsal hump and removal of the cephalic portions of the lower laterals and on indication a septal cartilage graft to improve tip projection. In case of a significant septal deviation causing snoring or nasal obstruction this can be reconstructed at the same time.
Endonasal deformity and satisfaction with nasal functioning
The most frequently found deformity was the cartilaginous dorsal septal deviation (often accompanied by spurs and columellar septal luxation). Our detected prevalence of septal deviation is relatively high; however, in a "normal" population this prevalence is also high.28-29 Results of the Nasal Appearance and Function Evaluation Questionnaire
revealed that all patients with a septal deviation suffered from some degree of nasal obstruction; however, only two patients reported this to be “mostly” or “always”. Dorsal septal deviations can cause the perceived nasal obstructions and may contribute to incompetence of the internal nasal valve area; also, caudal deviations can affect the ex- ternal nasal valve area.30 Compared with controls, patients scored snoring significantly
more frequently. Explanations for nasal obstruction (other than septal deviation) were ruled out. In our adult patients, outcomes of snoring are similar to those in children with Treacher Collins and suggest that this is a consistent complaint for all ages; our results also match snoring frequencies in children with syndromic and complex craniosynos- tosis.17, 31 Because snoring in Treacher Collins does not allow to distinguish between
having/not having obstructive sleep apnea, a polysomnography is indicated.17
Although our patients frequently complained about the olfactory function, it was not different from the “standard” in our control group.32 However, this was subjective deter-
mination of olfactory functioning. On the other hand, anosmia or hyposmia in Treacher Collins originating from a congenital sensorineural olfactory dysfunction is unlikely, as the olfactory placodes are derived from the neural plate and not from the neural crest.
In our patient group, only one was known with a choanal atresia/stenosis and, prior to the study, this patient underwent choanal surgery. In Treacher Collins syndrome, unilat- eral or bilateral choanal atresia is a rarely found and the exact prevalence is unknown.33
However, one study estimated the prevalence to be about 11%.12 Choanal atresia can
be caused by a persistence of the nasobuccal membrane during embryologic develop- ment. However, a hypoplastic maxilla or affected surrounding structures of the choanae (e.g. vomer, palatal bone, medial pterygoid lamina) can also lead to stenosis/atresia of the choanae.24 Interestingly, these structures can be affected due to a misdirection of
neural crest migration with subsequent mesodermal flow; this mechanism might be involved in the etiology of Treacher Collins syndrome.34
In the present study, the quality of phonation was a considerable functional issue. It is known that speech problems (e.g., hyponasality, hypernasality and articulation errors) are important and can occur in ≤ 74% of patients with Treacher Collins syndrome.12, 32
Limitations
The main limitation of the present study is the low participation rate. Moreover, no ob- jective external nasal measurements were performed; however, the nose was assessed by three independent raters. In addition, the nose was approached in a structured way, rather than measurements alone.
CONCLuSION
In this study group, although satisfaction with nasal esthetics is relatively good, the patients still suffer from the functional problems of snoring and impaired quality of phonation. A structured nasal ENT physical examination with nasal endoscopy could de- termine those aspects that require more attention during treatment. Septorhinoplasty can be performed at an adult age if the patient has a considerable esthetic wish and/or nasal obstruction combined with septal deviation. Special attention should be paid to dorsal hump reduction, correction of deviated external osseous framework, septoplasty, and correction of the shape of the nasal tip.
7
REFERENCES
1. Rovin S, Dachi SF, Borenstein DB, Cotter WB. Mandibulofacial Dysostosis, a Familial Study of Five Generations. J Pediatr 1964: 65: 215-21.
2. Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009: 17: 275-83.
3. Dauwerse JG, Dixon J, Seland S, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011: 43: 20-22.
4. Fazen LE, Elmore J, Nadler HL. Mandibulo-facial dysostosis. (Treacher-Collins syndrome). Am J Dis Child 1967: 113: 405-10.
5. Dixon J, Jones NC, Sandell LL, et al. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A 2006: 103: 13403-08.
6. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. Nat Genet 1996: 12: 130-36.
7. Hansen M, Lucarelli MJ, Whiteman DA, Mulliken JB. Treacher Collins syndrome: phenotypic vari- ability in a family including an infant with arhinia and uveal colobomas. Am J Med Genet 1996: 61: 71-74.
8. Arvystas M, Shprintzen RJ. Craniofacial morphology in Treacher Collins syndrome. Cleft Palate Craniofac J 1991: 28: 226-30; discussion 30-21.
9. Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future direc- tions. Cleft Palate Craniofac J 2000: 37: 434.
10. Posnick JC, Tiwana PS, Costello BJ. Treacher Collins syndrome: comprehensive evaluation and treatment. Oral Maxillofac Surg Clin North Am 2004: 16: 503-23.
11. Farkas LG, Posnick JC. Detailed morphometry of the nose in patients with Treacher Collins syn- drome. Ann Plast Surg 1989: 22: 211-19.
12. Thompson JT, Anderson PJ, David DJ. Treacher Collins syndrome: protocol management from birth to maturity. J Craniofac Surg 2009: 20: 2028-35.
13. Katsanis SH, Jabs EW. Treacher Collins Syndrome1993.
14. Miller JJ, Schendel SA. Invited discussion: Surgical treatment of Treacher Collins syndrome. Ann Plast Surg 2006: 56: 555-56.
15. Kobus K, Wojcicki P. Surgical treatment of Treacher Collins syndrome. Ann Plast Surg 2006: 56: 549-54.
16. Plomp RG, Bredero-Boelhouwer HH, Joosten KF, et al. Obstructive sleep apnea in Treacher Collins syndrome: prevalence, severity and cause. Int J Oral Maxillofac Surg 2012: 41: 696-701.
17. Plomp RG, Joosten KF, Wolvius EB, et al. Screening for obstructive sleep apnea in Treacher-Collins syndrome. Laryngoscope 2012: 122: 930-4.
18. Friedman M, Tanyeri H, Lim JW, et al. Effect of improved nasal breathing on obstructive sleep apnea. Otolaryngol Head Neck Surg 2000: 122: 71-4.
19. Sher AE. Obstructive sleep apnea syndrome: a complex disorder of the upper airway. Otolaryngol Clin North Am 1990: 23: 593-608.
20. Shprintzen RJ, Croft C, Berkman MD, Rakoff SJ. Pharyngeal hypoplasia in Treacher Collins syn- drome. Arch Otolaryngol 1979: 105: 127-31.
21. Moolenburgh SE, Mureau MA, Duivenvoorden HJ, Hofer SO. Validation of a questionnaire assess- ing patient's aesthetic and functional outcome after nasal reconstruction: the patient NAFEQ- score. J Plast Reconstr Aesthet Surg 2009: 62: 656-62.
22. Hennekam RC, Cormier-Daire V, Hall JG, et al. Elements of morphology: standard terminology for the nose and philtrum. Am J Med Genet A 2009: 149A: 61-76.
23. Kapadia H, Shetye PR, Grayson BH, McCarthy JG. Cephalometric assessment of craniofacial mor- phology in patients with treacher Collins syndrome. J Craniofac Surg 2013: 24: 1141-5.
24. Neskey D, Eloy JA, Casiano RR. Nasal, septal, and turbinate anatomy and embryology. Otolaryngol Clin North Am 2009: 42: 193-205, vii.
25. Versnel SL, Duivenvoorden HJ, Passchier J, Mathijssen IM. Satisfaction with facial appearance and its determinants in adults with severe congenital facial disfigurement: a case-referent study. J Plast Reconstr Aesthet Surg 2010: 63: 1642-9.
26. Versnel SL, Plomp RG, Passchier J, Duivenvoorden HJ, Mathijssen IM. Long-term psychological functioning of adults with severe congenital facial disfigurement. Plast Reconstr Surg 2012: 129: 110-7.
27. van den Elzen ME, Versnel SL, Duivenvoorden HJ, Mathijssen IM. Assessing nonacceptance of the facial appearance in adult patients after complete treatment of their rare facial cleft. Aesthetic Plast Surg 2012: 36: 938-45.
28. Gray LP. Deviated nasal septum. Incidence and etiology. Ann Otol Rhinol Laryngol Suppl 1978: 87: 3-20.
29. Yildirim I, Okur E. The prevalence of nasal septal deviation in children from Kahramanmaras, Turkey. Int J Pediatr Otorhinolaryngol 2003: 67: 1203-6.
30. Constantian MB, Clardy RB. The relative importance of septal and nasal valvular surgery in cor- recting airway obstruction in primary and secondary rhinoplasty. Plast Reconstr Surg 1996: 98: 38-54; discussion 55-8.
31. Bannink N, Mathijssen IM, Joosten KF. Can parents predict obstructive sleep apnea in children with syndromic or complex craniosynostosis? Int J Oral Maxillofac Surg 2010: 39: 421-3. 32. Plomp RG, Versnel SL, van Lieshout MJS, Poublon RML, Mathijssen IMJ. Long-term assessment of
facial features and functions needing more attention in treatment of Treacher Collins syndrome. Journal of Plastic Reconstructive and Aesthetic Surgery 2013: 66: E217-E26.
33. Andrade EC, Junior VS, Didoni AL, et al. Treacher Collins Syndrome with choanal atresia: a case report and review of disease features. Braz J Otorhinolaryngol 2005: 71: 107-10.
34. Hengerer AS, Strome M. Choanal atresia: a new embryologic theory and its influence on surgical management. Laryngoscope 1982: 92: 913-21.