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Characterization of Congenital Anomalies in Individuals with Choanal Atresia

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Characterization of Congenital Anomalies in Individuals with Choanal Atresia 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 hospi- merous conditions were seen, including chromosomal ab- tal’s experience with choanal atresia and stenosis normalities, single-gene defects, deformations, and those (CA/S) related to associated congenital anomalies caused by teratogens. Choanal atresia and stenosis was (birth defects, including minor abnormalities) and ge- unilateral in 62 patients (48.1%) and was bilateral in 60 netic disorders. patients (46.5%). Unilateral cases were more likely to be isolated (30 patients [53.2%]). Bilateral cases were more Design: Retrospective case series. likely to be associated with specific disorders or mul- tiple congenital anomalies (60 patients [98.4%]). There Setting: Tertiary care pediatric hospital. was no difference in laterality among unilateral cases. Patients: Individuals with CA/S. Conclusions: Choanal atresia and stenosis is associ- ated with a wide range of disorders. Congenital anoma- Main Outcome Measures: Identification of congen- lies, neurologic abnormalities, and developmental dis- ital anomalies, neurologic abnormalities, and develop- mental disabilities in individuals with CA/S. abilities are commonly identified in affected individuals. Bilateral CA/S is more commonly seen in patients in whom Results: One hundred twenty-nine individuals with CA/S specific diagnoses or other congenital anomalies are iden- were evaluated between July 1, 1997, and July 1, 2007. tified. Unilateral CA/S occurs more frequently in iso- Choanal atresia and stenosis was an isolated finding in lated cases. A comprehensive evaluation is recom- 34 patients (26.4%) and was associated with other anoma- mended in individuals with CA/S to evaluate for other lies in 95 patients (73.6%). Specific conditions were di- congenital anomalies, neurologic abnormalities, devel- agnosed in 66 patients (51.2%); CHARGE (coloboma, opmental delays, and evidence of a specific underlying heart defect, atresia choanae, retarded growth, genito- disorder. urinary abnormalities, and ear anomalies) syndrome was the most common diagnosis (33 patients [25.6%]). Nu- Arch Otolaryngol Head Neck Surg. 2009;135(6):543-547 HOANAL ATRESIA IS A COM- known, one theory attributes the cause of mon craniofacial defect choanal atresia to persistence of the buc- and is characterized by copharyngeal membranes or to failure of obstruction of the poste- the oronasal membrane to rupture.3 rior nasal passages. The Choanal atresia and stenosis is known incidence of choanal atresia is approxi- to be a component of many disorders. The C 1 5 Author Affiliations: Division of mately 1 case in 8000 live births. Al- POSSUM Web, London Dysmorphology Human Genetics, Department though it may occur up to twice as fre- Database,6 and Online Mendelian Inher- of Pediatrics (Drs Burrow, Saal, quently in females as in males,2 an itance in Man7 databases record 88, 81, and Martin, and Hopkin), Division extensive review article1 suggests a 1:1 ra- 67 conditions, respectively, with CA/S as of Pediatric Otolaryngology, tio of male to female frequency. A 2:1 ra- a related finding. CHARGE (coloboma, Department of Pediatric Surgery tio of unilateral to bilateral atresia has been heart defect, atresia choanae, retarded (Drs de Alarcon and Cotton), reported,3 although more recent findings growth, genitourinary abnormalities, and and Center for Epidemiology 4 and Biostatistics (Dr Martin), have demonstrated a 1:1 ratio. Addi- ear anomalies) syndrome is the most com- University of Cincinnati and tional malformations have been previ- monly reported disorder related to CA/S Cincinnati Children’s Hospital ously reported in up to 49% of individu- in the literature. Depending on the strin- Medical Center, Cincinnati, als with choanal atresia and stenosis gency of the diagnostic criteria and the way Ohio. (CA/S).1,2 Although the pathogenesis is un- in which they are applied in diagnosing (REPRINTED) ARCH OTOLARYNGOL HEAD NECK SURG/ VOL 135 (NO. 6), JUNE 2009 WWW.ARCHOTO.COM 543 ©2009 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/23/2021 tic group were calculated. Patients whose laterality was not Table 1. Number of Patients With Choanal Atresia recorded (n=7) were excluded from statistical analyses. and Stenosis per Diagnosis Group CONGENITAL ANOMALIES No. of Associated AND CA/S ASSOCIATIONS Diagnoses a Diagnostic Group (n=130) The association between congenital anomalies and CA/S was Specific diagnoses (excluding CHARGE 25 evaluated. The proportion of individuals with isolated unilat- syndrome and chromosomal abnormalities) eral CA/S was compared with the proportion of individuals with CHARGE syndrome 33 unilateral CA/S related to the 4 diagnostic categories (MCA, Chromosomal abnormalities 9 specific diagnosis, CHARGE syndrome, and chromosomal ab- Isolated CA/S 34 normalities) using 4 independent ␹2 tests. The association be- Multiple congenital anomalies 29 tween neurologic findings, CA/S, and the different diagnostic groups was assessed using ␹2 tests. Bonferroni correction was Abbreviations: CA/S, choanal atresia and stenosis; CHARGE, coloboma, used to account for multiple testing and to reduce the risk of heart defect, atresia choanae, retarded growth, genitourinary abnormalities, 13 and ear anomalies. false-positive results. All analyses were performed using Epi a There were 129 patients. One patient had CHARGE syndrome and XXY. Info statistical software (version 3.4.1; Centers for Disease Con- trol and Prevention, Atlanta, Georgia). CHARGE syndrome, 7% to 29% of individuals with choanal atresia may meet diagnostic criteria for CHARGE RESULTS syndrome.1,8 Studies1,9 have focused on the relationship between CA/S One hundred twenty-nine patients with CA/S meeting and CHARGE syndrome. Fewer have addressed the asso- inclusion criteria for this study were evaluated at Cin- ciation of choanal atresia with other congenital anoma- cinnati Children’s Hospital Medical Center between lies (excluding CHARGE syndrome). Case reports have July 1, 1997, and July 1, 2007. Significantly more identified CA/S in individuals with other specific disor- females (n=76) than males (n=53) were affected with ders or with multiple congenital anomalies (MCA).10 CA/S (P=.04). In total, 97 patients (75.2%) had choa- In the present study, we sought to further elucidate nal atresia, 30 patients (23.3%) demonstrated choanal the relationship between CA/S and congenital anoma- stenosis, and 2 patients (1.6%) exhibited choanal atre- lies (including CHARGE syndrome). We reviewed the sia on one side and stenosis on the other side. congenital anomalies and specific conditions associated Approximately 50% of cases (n=62) were unilateral. with CA/S in 129 patients treated for CA/S at a large ter- Other congenital anomalies, neurologic signs, or tiary care pediatric center over 10 years. developmental disabilities were identified in approxi- mately 74% of affected individuals. Table 1 lists the METHODS numbers of patients identified per diagnostic group. Table 2 lists the specific diagnoses, including After approval from the Institutional Review Board at Cincin- CHARGE syndrome and chromosomal abnormalities. nati Children’s Hospital Medical Center, individuals were iden- One patient was diagnosed as having CHARGE syn- tified by surveying the hospital billing database for the diag- drome (based on clinical rather than molecular find- nosis of choanal atresia (International Classification of Diseases, ings) and Klinefelter syndrome (47,XXY); to our Ninth Revision code 748.0) between July 1, 1997, and July 1, knowledge, choanal atresia has not been previously 2007. Individuals demonstrating radiographic or nasopharyn- reported to be related to Klinefelter syndrome. goscopic evidence of CA/S (bilateral or unilateral and mem- When examining diagnostic groups by unilateral vs branous or bony CA/S) qualified for inclusion in the study. In- bilateral involvement, we found that 62 cases were dividuals with pyriform aperture stenosis were excluded from unilateral and 60 cases were bilateral. Unilateral cases the study. Details of the choanal defect, other malformations, were slightly more likely to be isolated (53.2%; 95% and additional specific diagnoses were entered into a com- puter database. Patients were categorized into the following 5 CI, 40.1%-60.0%). Bilateral cases were more likely to diagnostic groups for statistical analyses: isolated CA/S, MCA, be associated with specific diagnoses or with MCA specific diagnoses (excluding CHARGE syndrome or chromo- (98.4%; 95% CI, 91.1%-99.9%). Furthermore, indi- some abnormalities), CHARGE syndrome, and chromosomal viduals with isolated CA/S were much more likely to abnormalities. Individuals were included in the CHARGE syn- have unilateral involvement (97.1%; 95% CI, 84.7%- drome diagnostic group based on a clinical diagnosis of one of 99.9%). The proportion of unilateral cases among the the following: (1) presence of 4 major diagnostic characteris- other 4 diagnostic groups was significantly less tics, (2) presence of 3 major and 3 minor diagnostic charac- (PϽ.001 for all) (Figure 1). 11 teristics, or (3) presence of the CHD7 (OMIM_608892) mu- There was no difference in right-sided vs left-sided tation.12 Individuals lacking a definite diagnosis but CA/S for unilateral cases. Figure
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