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Original Article
June 2009

Characterization of Congenital Anomalies in Individuals With Choanal Atresia

Author Affiliations

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.

Arch Otolaryngol Head Neck Surg. 2009;135(6):543-547. doi:10.1001/archoto.2009.53
Abstract

Objective  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.

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