Title: Characterization of Congenital Anomalies in Individuals With Choanal Atresia
Abstract: <h3>Objective</h3> 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. <h3>Design</h3> Retrospective case series. <h3>Setting</h3> Tertiary care pediatric hospital. <h3>Patients</h3> Individuals with CA/S. <h3>Main Outcome Measures</h3> Identification of congenital anomalies, neurologic abnormalities, and developmental disabilities in individuals with CA/S. <h3>Results</h3> 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. <h3>Conclusions</h3> 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.
Publication Year: 2009
Publication Date: 2009-06-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 105
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