Journal of Plastic, Reconstructive & Aesthetic Surgery (2015) 68, 771e781
Nasal sequelae of Treacher Collins syndrome Raul G. Plomp a,*, Irene M.J. Mathijssen a, Sanne E. Moolenburgh a, Kees A.G.M. van Montfort c, ´ M.L. Poublon b Jacques J.N.M. van der Meulen a, Rene a Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands b Department of Otorhinolaryngology e Head and Neck Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands c Department of Biostatistics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
Received 16 April 2014; accepted 27 February 2015
KEYWORDS Treacher Collins syndrome; External nasal deformity; Endonasal deformity; Mandibulofacial dysostosis; Satisfaction with nasal appearance; Nose
Summary Objective: This study aimed to determine external and endonasal deformity, and satisfaction with nasal functioning and appearance, in Treacher Collins syndrome. Study design: A cross-sectional cohort study was conducted. Methods: Eleven adult patients with Treacher Collins syndrome were compared with 151 controls in terms of satisfaction with nasal functioning and appearance by means of the Nasal Appearance and Function Evaluation Questionnaire. In all patients with Treacher Collins syndrome, external nasal deformities were scored on standardized digital photographs of the nose as rated independently by three experienced physicians. Endonasal deformity was determined by standardized nasal endoscopy. Results: The patients were relatively satisfied with the various esthetic nasal subunits. The most significant functional problems were snoring (P Z 0.001) and quality of phonation (P Z 0.003). The main external nasal deformities were the dorsal hump (73%), external deviation (55%), the bifid or bulbous nasal tip (55%), and columellar septal luxation (55%). In 82% of the patients, a septal deviation was found, often associated with spurs. Conclusion: Satisfaction with esthetics of the nose was fair, but these patients suffer from the functional problems of snoring and impaired quality of phonation. A structured nasal ENT physical examination with nasal endoscopy might determine aspects requiring more attention during treatment. Septorhinoplasty can be performed at an adult age if there is a considerable esthetic wish of the patient and/or nasal obstruction combined with septal
* Corresponding author. Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Room Ee15.89, Postbox 2040, 3000 CA Rotterdam, The Netherlands. Tel.: þ31 10 7043242; fax: þ31 10 7044685. E-mail addresses: [email protected], [email protected] (R.G. Plomp). http://dx.doi.org/10.1016/j.bjps.2015.02.029 1748-6815/ª 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
772
R.G. Plomp et al. deviation. Attention should be paid to dorsal hump reduction, correction of the deviated external osseous framework, septoplasty, and correction of the nasal tip shape. Level of evidence: 2b ª 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
Introduction
Materials/patients and methods
Treacher Collins syndrome is a rare congenital craniofacial syndrome with an incidence of one in 50,000 live births and an autosomal dominant inheritance pattern.1e3 In this syndrome, craniofacial deformities consist of bilateral defects in the periorbital region, mandibular hypoplasia and hypoplasia of zygoma and microtia, and middle-ear deformities.4 Treacher Collins syndrome is mainly caused by mutations in TCOF1, which compromise the ability of neuroepithelial cells to proliferate during early embryogenesis, leading to neuroepithelial apoptosis (programmed cell death) and, finally, affecting development of the first and second pharyngeal arch. Haploinsufficiency of TCOF1 causes hypoplasia of the frontonasal and maxillary regions, cleft palate, and mandibular hypoplasia.5,6 Other causative mutations for Treacher Collins syndrome can be found in POLR1D and PORLR1C.3 Although the nose can be severely affected, as illustrated by a case report of arhinia,7 the nose is not always mentioned as a craniofacial feature in Treacher Collins syndrome.8 Only one study in 1989 performed morphometry of the external nose in Treacher Collins syndrome (mainly in children), and only one group has reported a possible surgical treatment for the deformities as described by Farkas and Posnick in 1989.9e11 In addition, current treatment overviews seldom (or never) describe nasal reconstruction or other methods of treatment of the nose.12e15 Moreover, these few specific overviews/studies describe only the external nose and do not include nasal functioning. However, nasal functioning warrants attention because intrinsic nasal problems can have a causal relation with obstructive sleep apnea, which is frequently present in Treacher Collins syndrome.16e18 Although other upper airway deformities have (to some extent) been described in Treacher Collins syndrome, endonasal deformities have not e although this is essential to at least exclude them as a focus of obstructive sleep apnea.19,20 In general, there is a lack of literature and data on nasal deformity and nasal functioning in Treacher Collins syndrome. Therefore, in adult patients with Treacher Collins syndrome, the present study aimed to determine the following: (1) patients’ problems with nasal functioning, and their satisfaction with nasal appearance, using a validated questionnaire compared with controls; physicians’ assessment of (2) external nasal deformities using standardized digital photographs, and (3) endonasal deformities by means of flexible endoscopy.
Patient selection We conducted a single-center cross-sectional cohort study. Patients in the Treacher Collins group were included if they had been diagnosed with Treacher Collins syndrome by the multidisciplinary craniofacial team of the Erasmus University Medical Center since 1974 (i.e., during a 37-year period). All adult patients (age 18 years) were eligible for inclusion. All investigations (described below) took place at our outpatient clinic on the same day (per patient) in October 2012. In addition, data on a control group of 151 adults were obtained from the Nasal Appearance and Function Evaluation Questionnaire (see below). The Exclusion criteria for both groups were age
Nasal sequelae of Treacher Collins syndrome Raul G. Plomp a,*, Irene M.J. Mathijssen a, Sanne E. Moolenburgh a, Kees A.G.M. van Montfort c, ´ M.L. Poublon b Jacques J.N.M. van der Meulen a, Rene a Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands b Department of Otorhinolaryngology e Head and Neck Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands c Department of Biostatistics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
Received 16 April 2014; accepted 27 February 2015
KEYWORDS Treacher Collins syndrome; External nasal deformity; Endonasal deformity; Mandibulofacial dysostosis; Satisfaction with nasal appearance; Nose
Summary Objective: This study aimed to determine external and endonasal deformity, and satisfaction with nasal functioning and appearance, in Treacher Collins syndrome. Study design: A cross-sectional cohort study was conducted. Methods: Eleven adult patients with Treacher Collins syndrome were compared with 151 controls in terms of satisfaction with nasal functioning and appearance by means of the Nasal Appearance and Function Evaluation Questionnaire. In all patients with Treacher Collins syndrome, external nasal deformities were scored on standardized digital photographs of the nose as rated independently by three experienced physicians. Endonasal deformity was determined by standardized nasal endoscopy. Results: The patients were relatively satisfied with the various esthetic nasal subunits. The most significant functional problems were snoring (P Z 0.001) and quality of phonation (P Z 0.003). The main external nasal deformities were the dorsal hump (73%), external deviation (55%), the bifid or bulbous nasal tip (55%), and columellar septal luxation (55%). In 82% of the patients, a septal deviation was found, often associated with spurs. Conclusion: Satisfaction with esthetics of the nose was fair, but these patients suffer from the functional problems of snoring and impaired quality of phonation. A structured nasal ENT physical examination with nasal endoscopy might determine aspects requiring more attention during treatment. Septorhinoplasty can be performed at an adult age if there is a considerable esthetic wish of the patient and/or nasal obstruction combined with septal
* Corresponding author. Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Room Ee15.89, Postbox 2040, 3000 CA Rotterdam, The Netherlands. Tel.: þ31 10 7043242; fax: þ31 10 7044685. E-mail addresses: [email protected], [email protected] (R.G. Plomp). http://dx.doi.org/10.1016/j.bjps.2015.02.029 1748-6815/ª 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
772
R.G. Plomp et al. deviation. Attention should be paid to dorsal hump reduction, correction of the deviated external osseous framework, septoplasty, and correction of the nasal tip shape. Level of evidence: 2b ª 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
Introduction
Materials/patients and methods
Treacher Collins syndrome is a rare congenital craniofacial syndrome with an incidence of one in 50,000 live births and an autosomal dominant inheritance pattern.1e3 In this syndrome, craniofacial deformities consist of bilateral defects in the periorbital region, mandibular hypoplasia and hypoplasia of zygoma and microtia, and middle-ear deformities.4 Treacher Collins syndrome is mainly caused by mutations in TCOF1, which compromise the ability of neuroepithelial cells to proliferate during early embryogenesis, leading to neuroepithelial apoptosis (programmed cell death) and, finally, affecting development of the first and second pharyngeal arch. Haploinsufficiency of TCOF1 causes hypoplasia of the frontonasal and maxillary regions, cleft palate, and mandibular hypoplasia.5,6 Other causative mutations for Treacher Collins syndrome can be found in POLR1D and PORLR1C.3 Although the nose can be severely affected, as illustrated by a case report of arhinia,7 the nose is not always mentioned as a craniofacial feature in Treacher Collins syndrome.8 Only one study in 1989 performed morphometry of the external nose in Treacher Collins syndrome (mainly in children), and only one group has reported a possible surgical treatment for the deformities as described by Farkas and Posnick in 1989.9e11 In addition, current treatment overviews seldom (or never) describe nasal reconstruction or other methods of treatment of the nose.12e15 Moreover, these few specific overviews/studies describe only the external nose and do not include nasal functioning. However, nasal functioning warrants attention because intrinsic nasal problems can have a causal relation with obstructive sleep apnea, which is frequently present in Treacher Collins syndrome.16e18 Although other upper airway deformities have (to some extent) been described in Treacher Collins syndrome, endonasal deformities have not e although this is essential to at least exclude them as a focus of obstructive sleep apnea.19,20 In general, there is a lack of literature and data on nasal deformity and nasal functioning in Treacher Collins syndrome. Therefore, in adult patients with Treacher Collins syndrome, the present study aimed to determine the following: (1) patients’ problems with nasal functioning, and their satisfaction with nasal appearance, using a validated questionnaire compared with controls; physicians’ assessment of (2) external nasal deformities using standardized digital photographs, and (3) endonasal deformities by means of flexible endoscopy.
Patient selection We conducted a single-center cross-sectional cohort study. Patients in the Treacher Collins group were included if they had been diagnosed with Treacher Collins syndrome by the multidisciplinary craniofacial team of the Erasmus University Medical Center since 1974 (i.e., during a 37-year period). All adult patients (age 18 years) were eligible for inclusion. All investigations (described below) took place at our outpatient clinic on the same day (per patient) in October 2012. In addition, data on a control group of 151 adults were obtained from the Nasal Appearance and Function Evaluation Questionnaire (see below). The Exclusion criteria for both groups were age
