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Characterization of congenital anomalies in individuals with choanal atresia Burrow TA; Saal HM; de Alarcon A; Martin LJ; Cotton RT; Hopkin RJArch Otolaryngol Head Neck Surg 2009[Jun]; 135 (6): 543-7OBJECTIVE: To review a tertiary care pediatric hospital's experience with choanal atresia and stenosis (CA/S) 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 CA/S. MAIN OUTCOME MEASURES: Identification of congenital anomalies, neurologic abnormalities, and developmental disabilities in individuals with CA/S. RESULTS: One hundred twenty-nine individuals with CA/S were evaluated between July 1, 1997, and July 1, 2007. Choanal atresia and stenosis was an isolated finding in 34 patients (26.4%) and was associated with other anomalies in 95 patients (73.6%). Specific conditions were diagnosed in 66 patients (51.2%); CHARGE (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 60 patients (46.5%). Unilateral cases were more likely to be isolated (30 patients [53.2%]). Bilateral cases were more likely to be associated with specific disorders or multiple congenital anomalies (60 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 CA/S is more commonly seen in patients in whom specific diagnoses or other congenital anomalies are identified. Unilateral CA/S occurs more frequently in isolated cases. A comprehensive evaluation is recommended in individuals with CA/S to evaluate for other congenital anomalies, neurologic abnormalities, developmental delays, and evidence of a specific underlying disorder.|Abnormalities, Multiple/*epidemiology[MESH]|Child[MESH]|Choanal Atresia/*epidemiology[MESH]|Chromosome Aberrations/statistics & numerical data[MESH]|Developmental Disabilities/epidemiology[MESH]|Female[MESH]|Heart Defects, Congenital/epidemiology[MESH]|Humans[MESH]|Male[MESH]|Retrospective Studies[MESH]|Syndrome[MESH] |
