ORIGINAL ARTICLE. Characterization of Congenital Anomalies in Individuals With Choanal Atresia
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1 ORIGINAL ARTICLE Characterization of Congenital Anomalies in Individuals With Choanal Atresia T. Andrew Burrow, MD; Howard M. Saal, MD; Alessandro de Alarcon, MD; Lisa J. Martin, PhD; Robin T. Cotton, MD; Robert J. Hopkin, MD Objective: To review a tertiary care pediatric hospital s experience with choanal atresia and stenosis () related to associated congenital anomalies (birth defects, including minor abnormalities) and genetic disorders. Design: Retrospective case series. Setting: Tertiary care pediatric hospital. Patients: Individuals with. Main Outcome Measures: Identification of congenital anomalies, neurologic abnormalities, and developmental disabilities in individuals with. Results: One hundred twenty-nine individuals with were evaluated between July 1, 1997, and July 1, 7. Choanal atresia and stenosis was an isolated finding in 34 patients (26.4%) and was associated with other anomalies in 95 patients (73.6%). conditions were diagnosed in 66 patients (51.2%); (coloboma, heart defect, atresia choanae, retarded growth, genitourinary abnormalities, and ear anomalies) syndrome was the most common diagnosis (33 patients [25.6%]). Numerous conditions were seen, including chromosomal abnormalities, single-gene defects, deformations, and those caused by teratogens. Choanal atresia and stenosis was unilateral in 62 patients (48.1%) and was bilateral in patients (46.5%). Unilateral cases were more likely to be isolated (3 patients [53.2%]). Bilateral cases were more likely to be associated with specific disorders or multiple congenital anomalies ( patients [98.4%]). There was no difference in laterality among unilateral cases. Conclusions: Choanal atresia and stenosis is associated with a wide range of disorders. Congenital anomalies, neurologic abnormalities, and developmental disabilities are commonly identified in affected individuals. Bilateral is more commonly seen in patients in whom specific diagnoses or other congenital anomalies are identified. Unilateral occurs more frequently in isolated cases. A comprehensive evaluation is recommended in individuals with to evaluate for other congenital anomalies, neurologic abnormalities, developmental delays, and evidence of a specific underlying disorder. Arch Otolaryngol Head Neck Surg. 9;135(6): Author Affiliations: Division of Human Genetics, Department of Pediatrics (Drs Burrow, Saal, Martin, and Hopkin), Division of Pediatric Otolaryngology, Department of Pediatric Surgery (Drs de Alarcon and Cotton), and Center for Epidemiology and Biostatistics (Dr Martin), University of Cincinnati and Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio. CHOANAL ATRESIA IS A COMmon craniofacial defect and is characterized by obstruction of the posterior nasal passages. The incidence of choanal atresia is approximately 1 case in live births. 1 Although it may occur up to twice as frequently in females as in males, 2 an extensive review article 1 suggests a 1:1 ratio of male to female frequency. A 2:1 ratio of unilateral to bilateral atresia has been reported, 3 although more recent findings have demonstrated a 1:1 ratio. 4 Additional malformations have been previously reported in up to 49% of individuals with choanal atresia and stenosis (). 1,2 Although the pathogenesis is unknown, one theory attributes the cause of choanal atresia to persistence of the buccopharyngeal membranes or to failure of the oronasal membrane to rupture. 3 Choanal atresia and stenosis is known to be a component of many disorders. The POSSUM Web, 5 London Dysmorphology Database, 6 and Online Mendelian Inheritance in Man 7 databases record 88, 81, and 67 conditions, respectively, with as a related finding. (coloboma, heart defect, atresia choanae, retarded growth, genitourinary abnormalities, and ear anomalies) syndrome is the most commonly reported disorder related to in the literature. Depending on the stringency of the diagnostic criteria and the way in which they are applied in diagnosing 543
2 Table 1. Number of Patients With Choanal Atresia and Stenosis per Diagnosis Group Diagnostic Group syndrome, 7% to 29% of individuals with choanal atresia may meet diagnostic criteria for syndrome. 1,8 Studies 1,9 have focused on the relationship between and syndrome. Fewer have addressed the association of choanal atresia with other congenital anomalies (excluding syndrome). Case reports have identified in individuals with other specific disorders or with multiple congenital anomalies (). 1 In the present study, we sought to further elucidate the relationship between and congenital anomalies (including syndrome). We reviewed the congenital anomalies and specific conditions associated with in 129 patients treated for at a large tertiary care pediatric center over 1 years. METHODS After approval from the Institutional Review Board at Cincinnati Children s Hospital Medical Center, individuals were identified by surveying the hospital billing database for the diagnosis of choanal atresia (International Classification of Diseases, Ninth Revision code 748.) between July 1, 1997, and July 1, 7. Individuals demonstrating radiographic or nasopharyngoscopic evidence of (bilateral or unilateral and membranous or bony ) qualified for inclusion in the study. Individuals with pyriform aperture stenosis were excluded from the study. Details of the choanal defect, other malformations, and additional specific diagnoses were entered into a computer database. Patients were categorized into the following 5 diagnostic groups for statistical analyses: isolated,, specific diagnoses (excluding syndrome or chromosome abnormalities), syndrome, and chromosomal abnormalities. Individuals were included in the syndrome diagnostic group based on a clinical diagnosis of one of the following: (1) presence of 4 major diagnostic characteristics, (2) presence of 3 major and 3 minor diagnostic characteristics, 11 or (3) presence of the CHD7 (OMIM_8892) mutation. 12 Individuals lacking a definite diagnosis but demonstrating additional anomalies were assigned the diagnosis of. DESCRIPTIVE STATISTICS No. of Associated (n=13) a diagnoses (excluding 25 syndrome and chromosomal abnormalities) syndrome 33 Chromosomal abnormalities 9 34 Multiple congenital anomalies 29 Abbreviations:, choanal atresia and stenosis;, coloboma, heart defect, atresia choanae, retarded growth, genitourinary abnormalities, and ear anomalies. a There were 129 patients. One patient had syndrome and XXY. To describe the cohort, frequencies and 95% confidence intervals (CIs) for side of involvement, diagnostic groups, involvement by diagnostic group, and neurologic findings by diagnostic group were calculated. Patients whose laterality was not recorded (n=7) were excluded from statistical analyses. CONGENITAL ANOMALIES AND ASSOCIATIONS The association between congenital anomalies and was evaluated. The proportion of individuals with isolated unilateral was compared with the proportion of individuals with unilateral related to the 4 diagnostic categories (, specific diagnosis, syndrome, and chromosomal abnormalities) using 4 independent 2 tests. The association between neurologic findings,, and the different diagnostic groups was assessed using 2 tests. Bonferroni correction was used to account for multiple testing and to reduce the risk of false-positive results. 13 All analyses were performed using Epi Info statistical software (version 3.4.1; Centers for Disease Control and Prevention, Atlanta, Georgia). RESULTS One hundred twenty-nine patients with meeting inclusion criteria for this study were evaluated at Cincinnati Children s Hospital Medical Center between July 1, 1997, and July 1, 7. Significantly more females (n=76) than males (n=53) were affected with (P=.4). In total, 97 patients (75.2%) had choanal atresia, 3 patients (23.3%) demonstrated choanal stenosis, and 2 patients (1.6%) exhibited choanal atresia on one side and stenosis on the other side. Approximately 5% of cases (n=62) were unilateral. Other congenital anomalies, neurologic signs, or developmental disabilities were identified in approximately 74% of affected individuals. Table 1 lists the numbers of patients identified per diagnostic group. Table 2 lists the specific diagnoses, including syndrome and chromosomal abnormalities. One patient was diagnosed as having syndrome (based on clinical rather than molecular findings) and Klinefelter syndrome (47,XXY); to our knowledge, choanal atresia has not been previously reported to be related to Klinefelter syndrome. When examining diagnostic groups by unilateral vs bilateral involvement, we found that 62 cases were unilateral and cases were bilateral. Unilateral cases were slightly more likely to be isolated (53.2%; 95% CI,.1%-.%). Bilateral cases were more likely to be associated with specific diagnoses or with (98.4%; 95% CI, 91.1%-99.9%). Furthermore, individuals with isolated were much more likely to have unilateral involvement (97.1%; 95% CI, 84.7%- 99.9%). The proportion of unilateral cases among the other 4 diagnostic groups was significantly less (P.1 for all) (Figure 1). There was no difference in right-sided vs left-sided for unilateral cases. Figure 2 shows the proportion of individuals with left-sided among unilateral cases in each diagnostic group. The chromosomal abnormalities diagnosis group was excluded from statistical analyses of laterality because of the small sample size. Other airway abnormalities (ie, tracheomalacia, laryngomalacia, and subglottic stenosis) were the most fre- 544
3 Table 2. for Which Choanal Atresia and Stenosis Was Identified Diagnosis No. of Cases syndrome 33 Familial 4 Diabetic embryopathy 3 Holoprosencephaly 3 Treacher Collins syndrome 3 Pfeiffer syndrome 3 Antley-Bixler syndrome 2 Trisomy 18 2 Trisomy , XXY 1 47, XYY 1 Apert syndrome 1 Crouzon syndrome 1 Caffey syndrome 1 Mandibulofacial dysostosis 1 Multiple epiphyseal dysplasia 1 Partial duplication chromosome 8 1 Teratoma 1 Toriello-Carey syndrome 1 Unbalanced X;22 translocation 1 Unspecified chromosome abnormality 1 Abbreviations:, choanal atresia and stenosis;, coloboma, heart defect, atresia choanae, retarded growth, genitourinary abnormalities, and ear anomalies. quently identified anomalies in individuals within the diagnosis group (Table 3), followed by mental retardation or developmental delay and brain abnormalities. However, combining brain abnormalities, developmental delay, and mental retardation, 55.2% of individuals in the diagnostic group had a neurologic abnormality. Altogether, 64 individuals (49.6%) exhibited developmental disabilities or mental retardation, neurologic signs, or brain abnormalities. By definition, individuals with isolated did not demonstrate neurologic abnormalities. Neurologic abnormalities were significantly more common among the other 4 diagnostic groups (P.1) (Figure 3). Individuals with syndrome were much more frequently diagnosed as having neurologic abnormalities compared with the and specific diagnoses diagnostic groups (P.1 and P=.2, respectively). The difference in proportions of neurologic findings between the syndrome and chromosomal abnormalities diagnostic groups was not statistically significant (P=.1). COMMENT Proportion With Unilateral, % 1 1 Choanal atresia is the most common craniofacial defect affecting the nose, occurring with an incidence of approximately 1 case in live births. 1 The present study is one of the largest reviews of choanal atresia and congenital anomalies in the literature. As found in a previous study, 2 female individuals were more frequently affected than male individuals in our series. There was no difference in laterality of the defect among unilateral isolated and syndromic cases. Previous studies 1,2 report additional malformations in approximately 47% to 49% of affected individuals. In this study, we identified additional malformations, neurologic signs, and developmental disabilities in approximately 29 individuals (22%). The discrepancy between our study and the previous studies may be related to ascertainment bias because some investigations were not specifically focused on identifying congenital anomalies associated with, while others relied on inclusion of information in malformation registries. Likewise, in the present study, all patient medical records were reviewed by a geneticist experienced in identifying congenital anomalies (T.A.B., H.M.S., or R.J.H.). Because the present study relied on retrospective medical record review, incomplete documentation within the medical records could have led to incomplete documentation of features in some cases. Although syndrome is the diagnosis most commonly related to choanal atresia in the literature, many patients with may not meet diagnostic criteria for syndrome. 1 With the advent of molecular test- Chromosomal Abnormalities Figure 1. Proportions with unilateral choanal atresia and stenosis () in each diagnostic group. *Statistically significant P value of.1 compared with isolated cases of. indicates coloboma, heart defect, atresia choanae, retarded growth, genitourinary abnormalities, and ear anomalies;, multiple congenital anomalies. Proportion With Left-Sided, % P =.24 P =.69 P =.97 Figure 2. Proportions with left-sided unilateral choanal atresia and stenosis () in each diagnostic group. *P value compared with isolated cases of ; P value for statistical significance equals.8. The chromosomal diagnosis group was not included in statistical analyses of laterality because of the small sample size. indicates coloboma, heart defect, atresia choanae, retarded growth, genitourinary abnormalities, and ear anomalies;, multiple congenital anomalies. 545
4 Table 3. Abnormalities Identified Among Individuals in the Multiple Congenital Anomalies Diagnostic Group Abnormality Affected, % Airway or pulmonary abnormalities 34.5 Brain abnormalities 27.6 Mental retardation or developmental delay 27.6 Congenital heart defects 24.1 Craniofacial abnormalities.7 Growth deficiency or failure to thrive 13.8 Skeletal abnormalities 13.8 Hearing impairment 13.8 Gastrointestinal tract abnormalities 13.8 Genital defects 1.3 Eye abnormalities 6.9 Renal abnormalities 3.4 Proportion With Neurologic Findings, % 1 1 P <.1 P =.2 P <.1 P =.1 Chromosomal Abnormalities Figure 3. Proportions of individuals with neurologic findings in each diagnostic group. *P value of.1 compared with isolated cases of unilateral choanal atresia and stenosis (). P value compared with (coloboma, heart defect, atresia choanae, retarded growth, genitourinary abnormalities, and ear anomalies syndrome). P value for statistical significance equals.5. indicates multiple congenital anomalies. ing for syndrome, the phenotype has expanded. Consequently, individuals having, other congenital anomalies, and identified CHD7 mutations but not meeting diagnostic criteria for syndrome have been recognized. Many individuals in this retrospective study were evaluated before the availability of molecular genetic testing for syndrome. Consequently, it is conceivable that the actual number of individuals with syndrome in this cohort is higher than that reported. Our data indicate that unilateral occurs more frequently in individuals with isolated presentation, whereas bilateral occurs more frequently in individuals with specific diagnoses or other. This is not surprising considering that genetic factors are likely to result in perturbations of embryogenesis with symmetric involvement. Our findings indicate that most patients with bilateral will have other anomalies and many will have identifiable disorders. The associated conditions identified in this study were varied, falling into several causative categories such as teratogenic exposures, chromosomal anomalies, single-gene disorders, and deformations. One of the more frequent associations was with craniosynostosis syndromes. ally, was identified in individuals with Pfeiffer, Antley-Bixler, Apert, and Crouzon syndromes. However, most (if not all) causes of craniosynostosis may be associated with an increased risk for. Children with, especially bilateral disease, should be evaluated for further evidence of a congenital anomaly. A broad range of associated congenital anomalies may be identified in individuals with, particularly brain abnormalities, developmental delays, and other airway abnormalities. These should be considered in individuals with. CONCLUSIONS Physicians caring for individuals with, especially those with bilateral presentation, should consider enlisting the help of a multidisciplinary team that includes developmental pediatricians and geneticists or dysmorphologists to perform comprehensive evaluations to identify further congenital anomalies and to aid in establishing the correct diagnosis. This should include obtaining a detailed prenatal medical history, particularly focusing on maternal diabetes mellitus and medication exposures, and a 3-generation pedigree. Because chromosomal abnormalities are commonly identified in individuals with, especially in patients with bilateral disease and other congenital anomalies, high-resolution chromosome analysis is recommended, with consideration of comparative genomic hybridization microarray analysis if no abnormality is identified. Testing for other diagnoses will depend on the specific findings associated with each patient. In addition, considering the high frequency of developmental delays and brain abnormalities in these individuals, we suggest that close developmental monitoring and brain imaging should be considered in all patient with, particularly if additional anomalies are identified. Submitted for Publication: September 3, 8; final revision received November 5, 8; accepted November 15, 8. Correspondence: Robert J. Hopkin, MD, Division of Human Genetics, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Ave, Mail Location Code 6, Cincinnati, OH (Rob.Hopkin@CCHMC.org). Author Contributions: Dr Hopkin had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: Burrow and Hopkin. Acquisition of data: Burrow and de Alarcon. Analysis and interpretation of data: Burrow, Saal, de Alarcon, Martin, Cotton, and Hopkin. Drafting of the manuscript: Burrow. Critical revision of the manuscript for important intellectual content: Burrow, Saal, de Alarcon, Martin, Cotton, and Hopkin. Statistical analysis: Martin. Study supervision: Saal, de Alarcon, Cotton, and Hopkin. Financial Disclosure: None reported. 546
5 Previous Presentations: This study was presented in part at the 28th Annual D. W. Smith Workshop of Malformations and Morphogenesis; August 1, 7; Williamsburg, Virginia; and at the 57th Annual Meeting of the American Society of Human Genetics; October 25, 7; San Diego, California. REFERENCES 1. Harris J, Robert E, Källén B. Epidemiology of choanal atresia with special reference to the association. Pediatrics. 1997;99(3): Freng A. Congenital choanal atresia: etiology, morphology and diagnosis in 82 cases. Scand J Plast Reconstr Surg. 1978;12(3): Keller JL, Kacker A. Choanal atresia, association, and congenital nasal stenosis. Otolaryngol Clin North Am. ;33(6): , viii. 4. Samadi DS, Shah UK, Handler SD. Choanal atresia: a twenty-year review of medical comorbidities and surgical outcomes. Laryngoscope. 3;113(2): Possum Web [CD-ROM computer program]. Version 5.7. Parkville, Victoria, Australia: Murdoch Childrens Research Institute, Royal Children s Hospital; London Medical Database. London Dysmorphology Database [CD-ROM computer program]. Version Oxford, England: Oxford University Press; OMIM: Online Mendelian Inheritance in Man. Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine. http: // Accessed March 25, Leclerc JE, Fearon B. Choanal atresia and associated anomalies. Int J Pediatr Otorhinolaryngol. 1987;13(3): Tellier AL, Cormier-Daire V, Abadie V, et al. syndrome: report of 47 cases and review. Am J Med Genet. 1998;76(5): Andrade EC, Júnior VS, Didoni AL, Freitas PZ, Carneiro AF, Yoshimoto FR. Treacher Collins syndrome with choanal atresia: a case report and review of disease features. Braz J Otorhinolaryngol. 5;71(1): Blake KD, Davenport SL, Hall BD, et al. association: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1998;37(3): Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 3 update. Hum Mutat. 3;21(6): Ludbrook J. Multiple comparison procedures updated. Clin Exp Pharmacol Physiol. 1998;25(12): Correction Error in Author Name. In the articled titled Lower Reconstruction and Restoration of Oral Competence With Dynamic Palmaris Longus Vascularized Sling published in the December 1998 issue of the Archives (1998; 124[12]: ), one of the authors was listed as Ramzi S. Musharafieh, MD. The name should have read Ramzi S. Moucharafieh, MD. 547
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