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Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature
International Journal of Pediatric Otorhinolaryngology 79 (2015) 1959–1962
Contents lists available at ScienceDirect
International Journal of Pediatric Otorhinolaryngology journal homepage: www.elsevier.com/locate/ijporl
Case Report
Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature Farzad Izadi, Aslan Ahmadi, Hosna Zobairy, Sepideh Bakhti, Hengameh Hirbod, Mahdi Safdarian * Department of Otolaryngology, Head and Neck Surgery, Iran University of Medical Sciences, Tehran, Iran
A R T I C L E I N F O
A B S T R A C T
Article history: Received 19 June 2015 Received in revised form 28 August 2015 Accepted 29 August 2015 Available online 4 September 2015
Fraser syndrome is a rare genetic disorder characterized by cryptophthalmos, syndactyly and laryngeal atresia. Although laryngeal webs occur uncommonly, they are the main cause of death in the first week of life in these patients. In this paper, we report two cases of Fraser syndrome with laryngeal webs. One of them was a twelve-year-old girl, primarily diagnosed with a supraglottic laryngeal web. In the course of treatment, a second web was also identified at the level of vocal cords, which is to our knowledge the first case of Fraser syndrome with two laryngeal webs in different levels. ß 2015 Elsevier Ireland Ltd. All rights reserved.
Keywords: Fraser syndrome Laryngeal stenosis Laryngeal web CO2 laser
1. Introduction Fraser syndrome, first described by George Fraser in 1962, is a rare autosomal recessive disorder characterized by cryptophthalmos (failure of eyelid formation) and syndactyly (webbing of fingers and toes) [1]. Fewer than 140 cases of this syndrome have been reported so far in the literature [2–4]. This genetic disorder may be also associated with urinary tract, ear, nose or laryngeal abnormalities [5]. ENT manifestations of Fraser syndrome include abnormalities of ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares, choanal stenosis or atresia), and larynx (glottic web, subglottic stenosis) [6]. Although laryngeal webs are rather uncommon, involving one fifth of the patients, they may cause serious respiratory distress [7,8]. Meanwhile, laryngeal stenosis and consequential respiratory distress are the most common cause of death in affected patients who died in the first week of life [2]. 2. Material and methods Here we present two cases of Fraser syndrome with laryngeal webs that were diagnosed and treated in our institute. One of them
* Corresponding author. Tel.: +98 21 77834126/98 91 27966647; fax: +98 21 77256860. E-mail addresses: [email protected] (F. Izadi), [email protected] (A. Ahmadi), [email protected], [email protected] (M. Safdarian). http://dx.doi.org/10.1016/j.ijporl.2015.08.043 0165-5876/ß 2015 Elsevier Ireland Ltd. All rights reserved.
had two laryngeal webs in different levels, which is to our knowledge the first case of its kind. The management of the cases is discussed beside a review of the literature. The patients’ parents have consented to the submission of the case reports for submission to the journal and the permission is granted to show the face of the patients. 2.1. Case presentation 2.1.1. Case 1 An eleven-year-old girl was admitted to ENT department because of partial airway obstruction. There was a history of respiratory distress and cyanosis at birth for which tracheostomy was done at the second day of life. Her language and fine motor developmental milestones had mild delays. She had cryptophthalmos of the left eye in addition to low set ears and stenosis of external auditory canals of both ear. There were syndactyly, involving both hands and feet digits besides clitromegalyas (Fig. 1). Using direct laryngoscopic investigation, a laryngeal web was diagnosed at the level of glottis. The web was operated three times with CO2 laser ablation and open surgery in another center; however, one year postoperatively, the treatment was complicated with suprastomal stenosis. 2.1.2. Case 2 A twelve-year-old girl, known case of Fraser syndrome was referred to our university hospital with the complaint of
1960
F. Izadi et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 1959–1962
Fig. 1. Clinical photographs of an 11-year-old female with cryptophthalmos and syndactyly of the hand and foot digits.
Fig. 2. Clinical photographs showing a twelve-year-old female with cryptophthalmos (a) and syndactyly of the hand (b) and foot (c) digits.
Fig. 3. (a) Preoperative laryngoscopy showing two webs at the level of supraglottis and glottis (white arrows). (b) Release of the both laryngeal webs with laser in the same patient.
hoarseness and respiratory distress during intense exercise. She was the only child of a consanguineous marriage with cryptophthalmos, syndactyly, clitomegaly, low set ears and stenotic external auditory canals (Fig. 2). Laboratory tests and paraclinic findings were all in normal range. Direct laryngoscopic investigation revealed a web at the level of false vocal cords in the interarytenoids area. Another web was discovered in the proximity of the vocal cords. Based on these findings, our patient was scheduled for laser microlaryngeal surgery. Intraoperatively, the false vocal
cords were fused together anteriorly to form a supraglottic web. At the glottic level, a separate membranous web extending from anterior commissure to the vocal process resulted in a second laryngeal narrowing (Fig. 3). 3. Results The first case underwent laryngofissure to remove the stenosis which was detected at glottic and subglottic level. A cadaveric
F. Izadi et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 1959–1962
cartilage was used as a graft for reconstruction framework and anterior augmentation, supported by a Montgomery T-tube. The patient is now under regular follow-up and her tracheostomy tube is removed (Fig. 4). For the second case, using carbon dioxide laser set at 2–4 W in the superpulse mode, both webs were successfully excised in the midline. The patient was discharged with tracheostomy. However, she was readmitted two months later, due to recurrence of exertional dyspnea, although symptoms were not as severe as before surgery. A second surgery was performed and about half of initial lesions were identified at the both levels. Adhesions were released using CO2 laser. The postoperative course was unremarkable and the ostoma was sealed successfully. The patient was symptom-free during 6 months of follow-up. 4. Discussion: Fraser syndrome (OMIM 219000) is most constantly associated with cryptophthalmos, syndactyly and genital anomalies in up to 93 percent of patients; however laryngeal webs are not a common feature of this disorder [7]. Barisic et al. in an population-based epidemiological study of 12,886,464 births in European population, reported a prevalence of 0.2 per 100,000 births for this rare disorder [1]. Reviewing previous studies shows that only 20 percent of cases with Fraser syndrome may have symptomatic laryngeal stenosis [8,9]. Laryngeal webs may cause serious consequences depends on the location and severity of the stenosis. These lesions represent partial failure of the larynx to recanalize during third month of gestational life [10]. The diagnosis of the Fraser syndrome can be made at birth from the obvious malformations, although occasionally made on prenatal ultrasound. Van Haelst et al. studied the clinical manifestations of 59 affected individuals from 40 families (25 consanguineous), and compared the findings to data from previous
Fig. 4. The first case is under regular follow-up and her tracheostomy tube is removed.
1961
reviews. In their survey, higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus was found. Prenatally diagnosed patients had more manifestations that gave rise to a pathological amount of amniotic fluid. Based on their results, they suggested an adaptation of diagnostic criteria for Fraser syndrome, with adding airway tract and urinary tract anomalies as major criteria [11]. Recent studies showed that the majority of the deaths in Fraser syndrome occur in the first week of life and the half are stillbirths. Most of them die due to central nervous system (CNS) malformations, laryngeal stenosis or atresia, respiratory insufficiency, obstructive uropathy or bilateral renal agenesis [3,4,11]. Mathers et al. retrospectively reviewed their experience in the management of 10 children with Fraser syndrome who presented to their institution over a 30-year period. There were a total number of 125 procedures performed under general anesthesia during this period. Ten (8%) anesthetic complications, all related to management of the airway. However, there was a relatively high incidence of difficult or impossible tracheal intubation (20%) due to glottic stenosis [3]. The treatment of the cases with Fraser syndrome is usually based on the malformations and genetic counseling and the prognosis depends on the severity of laryngeal and renal malformations [12]. Carbon dioxide (CO2) laser has been defined as an established method for thermal ablation of the laryngeal webs. Other treatments for symptomatic laryngeal webs involve endotracheal procedures such as incision with cold knife, laryngeal micro scissors, and stent insertion [13]. Open surgical reconstruction is reserved for cases with associated laryngeal atresia and/or structural deformities. The literature relevant to surgical practice, decision making and surgical techniques in dealing with Fraser syndrome anomalies is mainly about challenging with ocular malformations [14–16] and it is somehow poor especially in the field of laryngeal webs. Prenatal diagnosis of Fraser syndrome is possible with typical ultrasonographic features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and is also critical because difficult intubation due to laryngeal atresia is usually incompatible with life in infants with Fraser syndrome [17]. Although, the most associated finding with this syndrome is cryptophthalmos, congenital malformations of the nose, ears and larynx comprise half of the minor criteria in diagnosis of Fraser syndrome [8]. Some of these otolaryngologic manifestations seriously affect the prognosis for immediate survival after birth. This syndrome is associated with various types of laryngeal abnormalities such as subglottic stenosis, laryngeal webbing or atresia. Subglottic stenosis is the most frequent type of laryngeal anomaly, in contrast to laryngeal atresia, which is rarely seen [17]. Outcome depends upon the degree of obstruction, the ability of the medical staff to make an accurate diagnosis and the establishment of an adequate airway in a timely manner. This can be accomplished by either intubation or tracheotomy. However, these patients will usually require the placement of a tracheostomy while they await complete repair of the laryngeal defect. Final repair of the laryngeal stenosis is usually deferred until the child is about l–2 years old when adequate thyroid cartilage development has occurred [12]. Crowe et al. have described an infant with Fraser syndrome who could not been intubated due to a glottic web and who was managed by tracheostomy during elective surgery at the age of 3 weeks [18] while unidentified Fraser syndrome with laryngeal atresia caused failure of intubation and resuscitation in the delivery room in the case reported by Okumus et al. [17]. Our first patient in this study was initially managed with CO2 laser in other center and the treatments were complicated with stenosis. Therefore, she underwent laryngofissure in our hospital
1962
F. Izadi et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 1959–1962
to remove glottic and subglottic stenosis and to reconstruct the larynx. On the other hand, the second case was primary and she was treated completely after two-section co2 laser. At the time of writing this report, our cases are asymptomatic with no sign of respiratory tract stenosis or new web formation. To the best of our knowledge, none of the previous cases of Fraser syndrome had two webs, in different laryngeal levels. 5. Conclusion Fraser syndrome is a rare genetic disorder that may uncommonly be associated with respiratory stenosis due to laryngeal webs. This report, for the first time, shows that a patient with this congenital disorder may develop more than one web in different levels of the larynx. Conflict of interests The authors have no conflict of interest, financial or otherwise with any organization. References [1] I. Barisic, L. Odak, M. Loane, E. Garne, D. Wellesley, E. Calzolari, et al., Fraser syndrome: epidemiological study in a European population, Am. J. Med. Genet. A 161A (5) (2013) 1012–1018. [2] A.M. Slavotinek, C.J. Tifft, Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes, J. Med. Genet. 39 (9) (2002) 623–633. [3] J.D. Mathers, T.M. Breen, J.H. Smith, Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics, Paediatr. Anaesth. 24 (12) (2014) 1288–1294.
[4] B.W. Holland, J.A. Koufman, G.N. Postma, W.F. McGuirt Jr., Laryngopharyngeal reflux and laryngeal web formation in patients with pediatric recurrent respiratory papillomas, Laryngoscope 112 (11) (2002) 1926–1929. [5] M.M. Mina, C. Greenberg, B. Levin, ENT abnormalities associated with Fraser syndrome: case report and literature review, J. Otolaryngol. 17 (5) (1988) 233– 236. [6] G.R. Ford, R.M. Irving, N.S. Jones, C.M. Bailey, ENT manifestations of Fraser syndrome, J. Laryngol. Otol. 106 (1) (1992) 1–4. [7] J. Gattuso, M.A. Patton, M. Baraitser, The clinical spectrum of the Fraser syndrome: report of three new cases and review, J. Med. Genet. 24 (9) (1987) 549–555. [8] I.T. Thomas, J.L. Frias, V. Felix, L. Sanchez de Leon, R.A. Hernandez, M.C. Jones, Isolated and syndromic cryptophthalmos, Am. J. Med. Genet. 25 (1) (1986) 85–98. [9] M.L. Kulkarni, C. Sureshkumar, V. Venkataraman, Syndromic and isolated cryptophthalmos, Indian Pediatr. 32 (10) (1995) 1112–1114. [10] T.A. Padhya, K.M. Wison, Congenital disorders, in: A.M. Seiden, T.A. Tami, M.L. Pensak, R.T. Cotton, J.L. Gluckman (Eds.), Chapter 36. Otolaryngology: The Essentials, Thieme, New York, 2011, p. 249. [11] M.M. van Haelst, P.J. Scambler, R.C. Hennekam, Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria, Am. J. Med. Genet. A 143A (24) (2007) 3194–3203. [12] D.E. Karas, D.S. Respler, Fraser syndrome: a case report and review of the otolaryngologic manifestations, Int. J. Pediatr. Otorhinolaryngol. 31 (1) (1995) 85–90. [13] M.E. Wyatt, B.E. Hartley, Laryngotracheal reconstruction in congenital laryngeal webs and atresias, Otolaryngol. – Head Neck Surg. 132 (2) (2005) 232–238. [14] G.M. Saleh, B. Hussain, D.H. Verity, J.R. Collin, A surgical strategy for the correction of Fraser syndrome cryptophthalmos, Ophthalmology 116 (9) (2009), 1707–1712 e1. Epub 2009/08/01. [15] C.J. Weng, Surgical reconstruction in cryptophthalmos, British J. Plast. Surg. 51 (1) (1998) 17–21. [16] A.Q. Tran, B.W. Lee, R.M. Alameddine, B.S. Korn, D.O. Kikkawa, Reconstruction of unilateral incomplete cryptophthalmos in fraser syndrome, Ophthalmic Plast. Reconstr. Surg. (2015). [17] N. Okumus, E.E. Onal, C. Turkyilmaz, A. Biri, I.I. Gonul, S. Unal, et al., Resuscitation failure due to Fraser syndrome in a newborn undiagnosed in the prenatal period, Resuscitation 65 (2) (2005) 221–223. [18] S. Crowe, A. Westbrook, M. Bourke, B. Lyons, J. Russell, Impossible laryngeal intubation in an infant with Fraser syndrome, Paediatr. Anaesth. 14 (3) (2004) 276–278.
Contents lists available at ScienceDirect
International Journal of Pediatric Otorhinolaryngology journal homepage: www.elsevier.com/locate/ijporl
Case Report
Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature Farzad Izadi, Aslan Ahmadi, Hosna Zobairy, Sepideh Bakhti, Hengameh Hirbod, Mahdi Safdarian * Department of Otolaryngology, Head and Neck Surgery, Iran University of Medical Sciences, Tehran, Iran
A R T I C L E I N F O
A B S T R A C T
Article history: Received 19 June 2015 Received in revised form 28 August 2015 Accepted 29 August 2015 Available online 4 September 2015
Fraser syndrome is a rare genetic disorder characterized by cryptophthalmos, syndactyly and laryngeal atresia. Although laryngeal webs occur uncommonly, they are the main cause of death in the first week of life in these patients. In this paper, we report two cases of Fraser syndrome with laryngeal webs. One of them was a twelve-year-old girl, primarily diagnosed with a supraglottic laryngeal web. In the course of treatment, a second web was also identified at the level of vocal cords, which is to our knowledge the first case of Fraser syndrome with two laryngeal webs in different levels. ß 2015 Elsevier Ireland Ltd. All rights reserved.
Keywords: Fraser syndrome Laryngeal stenosis Laryngeal web CO2 laser
1. Introduction Fraser syndrome, first described by George Fraser in 1962, is a rare autosomal recessive disorder characterized by cryptophthalmos (failure of eyelid formation) and syndactyly (webbing of fingers and toes) [1]. Fewer than 140 cases of this syndrome have been reported so far in the literature [2–4]. This genetic disorder may be also associated with urinary tract, ear, nose or laryngeal abnormalities [5]. ENT manifestations of Fraser syndrome include abnormalities of ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares, choanal stenosis or atresia), and larynx (glottic web, subglottic stenosis) [6]. Although laryngeal webs are rather uncommon, involving one fifth of the patients, they may cause serious respiratory distress [7,8]. Meanwhile, laryngeal stenosis and consequential respiratory distress are the most common cause of death in affected patients who died in the first week of life [2]. 2. Material and methods Here we present two cases of Fraser syndrome with laryngeal webs that were diagnosed and treated in our institute. One of them
* Corresponding author. Tel.: +98 21 77834126/98 91 27966647; fax: +98 21 77256860. E-mail addresses: [email protected] (F. Izadi), [email protected] (A. Ahmadi), [email protected], [email protected] (M. Safdarian). http://dx.doi.org/10.1016/j.ijporl.2015.08.043 0165-5876/ß 2015 Elsevier Ireland Ltd. All rights reserved.
had two laryngeal webs in different levels, which is to our knowledge the first case of its kind. The management of the cases is discussed beside a review of the literature. The patients’ parents have consented to the submission of the case reports for submission to the journal and the permission is granted to show the face of the patients. 2.1. Case presentation 2.1.1. Case 1 An eleven-year-old girl was admitted to ENT department because of partial airway obstruction. There was a history of respiratory distress and cyanosis at birth for which tracheostomy was done at the second day of life. Her language and fine motor developmental milestones had mild delays. She had cryptophthalmos of the left eye in addition to low set ears and stenosis of external auditory canals of both ear. There were syndactyly, involving both hands and feet digits besides clitromegalyas (Fig. 1). Using direct laryngoscopic investigation, a laryngeal web was diagnosed at the level of glottis. The web was operated three times with CO2 laser ablation and open surgery in another center; however, one year postoperatively, the treatment was complicated with suprastomal stenosis. 2.1.2. Case 2 A twelve-year-old girl, known case of Fraser syndrome was referred to our university hospital with the complaint of
1960
F. Izadi et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 1959–1962
Fig. 1. Clinical photographs of an 11-year-old female with cryptophthalmos and syndactyly of the hand and foot digits.
Fig. 2. Clinical photographs showing a twelve-year-old female with cryptophthalmos (a) and syndactyly of the hand (b) and foot (c) digits.
Fig. 3. (a) Preoperative laryngoscopy showing two webs at the level of supraglottis and glottis (white arrows). (b) Release of the both laryngeal webs with laser in the same patient.
hoarseness and respiratory distress during intense exercise. She was the only child of a consanguineous marriage with cryptophthalmos, syndactyly, clitomegaly, low set ears and stenotic external auditory canals (Fig. 2). Laboratory tests and paraclinic findings were all in normal range. Direct laryngoscopic investigation revealed a web at the level of false vocal cords in the interarytenoids area. Another web was discovered in the proximity of the vocal cords. Based on these findings, our patient was scheduled for laser microlaryngeal surgery. Intraoperatively, the false vocal
cords were fused together anteriorly to form a supraglottic web. At the glottic level, a separate membranous web extending from anterior commissure to the vocal process resulted in a second laryngeal narrowing (Fig. 3). 3. Results The first case underwent laryngofissure to remove the stenosis which was detected at glottic and subglottic level. A cadaveric
F. Izadi et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 1959–1962
cartilage was used as a graft for reconstruction framework and anterior augmentation, supported by a Montgomery T-tube. The patient is now under regular follow-up and her tracheostomy tube is removed (Fig. 4). For the second case, using carbon dioxide laser set at 2–4 W in the superpulse mode, both webs were successfully excised in the midline. The patient was discharged with tracheostomy. However, she was readmitted two months later, due to recurrence of exertional dyspnea, although symptoms were not as severe as before surgery. A second surgery was performed and about half of initial lesions were identified at the both levels. Adhesions were released using CO2 laser. The postoperative course was unremarkable and the ostoma was sealed successfully. The patient was symptom-free during 6 months of follow-up. 4. Discussion: Fraser syndrome (OMIM 219000) is most constantly associated with cryptophthalmos, syndactyly and genital anomalies in up to 93 percent of patients; however laryngeal webs are not a common feature of this disorder [7]. Barisic et al. in an population-based epidemiological study of 12,886,464 births in European population, reported a prevalence of 0.2 per 100,000 births for this rare disorder [1]. Reviewing previous studies shows that only 20 percent of cases with Fraser syndrome may have symptomatic laryngeal stenosis [8,9]. Laryngeal webs may cause serious consequences depends on the location and severity of the stenosis. These lesions represent partial failure of the larynx to recanalize during third month of gestational life [10]. The diagnosis of the Fraser syndrome can be made at birth from the obvious malformations, although occasionally made on prenatal ultrasound. Van Haelst et al. studied the clinical manifestations of 59 affected individuals from 40 families (25 consanguineous), and compared the findings to data from previous
Fig. 4. The first case is under regular follow-up and her tracheostomy tube is removed.
1961
reviews. In their survey, higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus was found. Prenatally diagnosed patients had more manifestations that gave rise to a pathological amount of amniotic fluid. Based on their results, they suggested an adaptation of diagnostic criteria for Fraser syndrome, with adding airway tract and urinary tract anomalies as major criteria [11]. Recent studies showed that the majority of the deaths in Fraser syndrome occur in the first week of life and the half are stillbirths. Most of them die due to central nervous system (CNS) malformations, laryngeal stenosis or atresia, respiratory insufficiency, obstructive uropathy or bilateral renal agenesis [3,4,11]. Mathers et al. retrospectively reviewed their experience in the management of 10 children with Fraser syndrome who presented to their institution over a 30-year period. There were a total number of 125 procedures performed under general anesthesia during this period. Ten (8%) anesthetic complications, all related to management of the airway. However, there was a relatively high incidence of difficult or impossible tracheal intubation (20%) due to glottic stenosis [3]. The treatment of the cases with Fraser syndrome is usually based on the malformations and genetic counseling and the prognosis depends on the severity of laryngeal and renal malformations [12]. Carbon dioxide (CO2) laser has been defined as an established method for thermal ablation of the laryngeal webs. Other treatments for symptomatic laryngeal webs involve endotracheal procedures such as incision with cold knife, laryngeal micro scissors, and stent insertion [13]. Open surgical reconstruction is reserved for cases with associated laryngeal atresia and/or structural deformities. The literature relevant to surgical practice, decision making and surgical techniques in dealing with Fraser syndrome anomalies is mainly about challenging with ocular malformations [14–16] and it is somehow poor especially in the field of laryngeal webs. Prenatal diagnosis of Fraser syndrome is possible with typical ultrasonographic features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and is also critical because difficult intubation due to laryngeal atresia is usually incompatible with life in infants with Fraser syndrome [17]. Although, the most associated finding with this syndrome is cryptophthalmos, congenital malformations of the nose, ears and larynx comprise half of the minor criteria in diagnosis of Fraser syndrome [8]. Some of these otolaryngologic manifestations seriously affect the prognosis for immediate survival after birth. This syndrome is associated with various types of laryngeal abnormalities such as subglottic stenosis, laryngeal webbing or atresia. Subglottic stenosis is the most frequent type of laryngeal anomaly, in contrast to laryngeal atresia, which is rarely seen [17]. Outcome depends upon the degree of obstruction, the ability of the medical staff to make an accurate diagnosis and the establishment of an adequate airway in a timely manner. This can be accomplished by either intubation or tracheotomy. However, these patients will usually require the placement of a tracheostomy while they await complete repair of the laryngeal defect. Final repair of the laryngeal stenosis is usually deferred until the child is about l–2 years old when adequate thyroid cartilage development has occurred [12]. Crowe et al. have described an infant with Fraser syndrome who could not been intubated due to a glottic web and who was managed by tracheostomy during elective surgery at the age of 3 weeks [18] while unidentified Fraser syndrome with laryngeal atresia caused failure of intubation and resuscitation in the delivery room in the case reported by Okumus et al. [17]. Our first patient in this study was initially managed with CO2 laser in other center and the treatments were complicated with stenosis. Therefore, she underwent laryngofissure in our hospital
1962
F. Izadi et al. / International Journal of Pediatric Otorhinolaryngology 79 (2015) 1959–1962
to remove glottic and subglottic stenosis and to reconstruct the larynx. On the other hand, the second case was primary and she was treated completely after two-section co2 laser. At the time of writing this report, our cases are asymptomatic with no sign of respiratory tract stenosis or new web formation. To the best of our knowledge, none of the previous cases of Fraser syndrome had two webs, in different laryngeal levels. 5. Conclusion Fraser syndrome is a rare genetic disorder that may uncommonly be associated with respiratory stenosis due to laryngeal webs. This report, for the first time, shows that a patient with this congenital disorder may develop more than one web in different levels of the larynx. Conflict of interests The authors have no conflict of interest, financial or otherwise with any organization. References [1] I. Barisic, L. Odak, M. Loane, E. Garne, D. Wellesley, E. Calzolari, et al., Fraser syndrome: epidemiological study in a European population, Am. J. Med. Genet. A 161A (5) (2013) 1012–1018. [2] A.M. Slavotinek, C.J. Tifft, Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes, J. Med. Genet. 39 (9) (2002) 623–633. [3] J.D. Mathers, T.M. Breen, J.H. Smith, Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics, Paediatr. Anaesth. 24 (12) (2014) 1288–1294.
[4] B.W. Holland, J.A. Koufman, G.N. Postma, W.F. McGuirt Jr., Laryngopharyngeal reflux and laryngeal web formation in patients with pediatric recurrent respiratory papillomas, Laryngoscope 112 (11) (2002) 1926–1929. [5] M.M. Mina, C. Greenberg, B. Levin, ENT abnormalities associated with Fraser syndrome: case report and literature review, J. Otolaryngol. 17 (5) (1988) 233– 236. [6] G.R. Ford, R.M. Irving, N.S. Jones, C.M. Bailey, ENT manifestations of Fraser syndrome, J. Laryngol. Otol. 106 (1) (1992) 1–4. [7] J. Gattuso, M.A. Patton, M. Baraitser, The clinical spectrum of the Fraser syndrome: report of three new cases and review, J. Med. Genet. 24 (9) (1987) 549–555. [8] I.T. Thomas, J.L. Frias, V. Felix, L. Sanchez de Leon, R.A. Hernandez, M.C. Jones, Isolated and syndromic cryptophthalmos, Am. J. Med. Genet. 25 (1) (1986) 85–98. [9] M.L. Kulkarni, C. Sureshkumar, V. Venkataraman, Syndromic and isolated cryptophthalmos, Indian Pediatr. 32 (10) (1995) 1112–1114. [10] T.A. Padhya, K.M. Wison, Congenital disorders, in: A.M. Seiden, T.A. Tami, M.L. Pensak, R.T. Cotton, J.L. Gluckman (Eds.), Chapter 36. Otolaryngology: The Essentials, Thieme, New York, 2011, p. 249. [11] M.M. van Haelst, P.J. Scambler, R.C. Hennekam, Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria, Am. J. Med. Genet. A 143A (24) (2007) 3194–3203. [12] D.E. Karas, D.S. Respler, Fraser syndrome: a case report and review of the otolaryngologic manifestations, Int. J. Pediatr. Otorhinolaryngol. 31 (1) (1995) 85–90. [13] M.E. Wyatt, B.E. Hartley, Laryngotracheal reconstruction in congenital laryngeal webs and atresias, Otolaryngol. – Head Neck Surg. 132 (2) (2005) 232–238. [14] G.M. Saleh, B. Hussain, D.H. Verity, J.R. Collin, A surgical strategy for the correction of Fraser syndrome cryptophthalmos, Ophthalmology 116 (9) (2009), 1707–1712 e1. Epub 2009/08/01. [15] C.J. Weng, Surgical reconstruction in cryptophthalmos, British J. Plast. Surg. 51 (1) (1998) 17–21. [16] A.Q. Tran, B.W. Lee, R.M. Alameddine, B.S. Korn, D.O. Kikkawa, Reconstruction of unilateral incomplete cryptophthalmos in fraser syndrome, Ophthalmic Plast. Reconstr. Surg. (2015). [17] N. Okumus, E.E. Onal, C. Turkyilmaz, A. Biri, I.I. Gonul, S. Unal, et al., Resuscitation failure due to Fraser syndrome in a newborn undiagnosed in the prenatal period, Resuscitation 65 (2) (2005) 221–223. [18] S. Crowe, A. Westbrook, M. Bourke, B. Lyons, J. Russell, Impossible laryngeal intubation in an infant with Fraser syndrome, Paediatr. Anaesth. 14 (3) (2004) 276–278.