title: Characterization of congenital anomalies in individuals with choanal atresia.
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.
  
  
  METHODS
  Retrospective case series.
  
  
  METHODS
  Tertiary care pediatric hospital.
  
  
  METHODS
  Individuals with CA/S.
  
  
  METHODS
  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.
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.
authors.forename: T Andrew
authors.initials: TA
authors.lastname: Burrow
authors.forename: Howard M
authors.initials: HM
authors.lastname: Saal
authors.forename: Alessandro
authors.initials: A
authors.lastname: de Alarcon
authors.forename: Lisa J
authors.initials: LJ
authors.lastname: Martin
authors.forename: Robin T
authors.initials: RT
authors.lastname: Cotton
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology*; D002648:Child; D002754:Choanal Atresia / Q000453:epidemiology*; D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D002658:Developmental Disabilities / Q000453:epidemiology; D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D013577:Syndrome