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Characterization of congenital anomalies in individuals with choanal atresia.
Arch Otolaryngol Head Neck Surg. 2009 Jun; 135(6):543-7.AO

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.

Authors+Show Affiliations

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19528400

Citation

Burrow, T Andrew, et al. "Characterization of Congenital Anomalies in Individuals With Choanal Atresia." Archives of Otolaryngology--head & Neck Surgery, vol. 135, no. 6, 2009, pp. 543-7.
Burrow TA, Saal HM, de Alarcon A, et al. Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 2009;135(6):543-7.
Burrow, T. A., Saal, H. M., de Alarcon, A., Martin, L. J., Cotton, R. T., & Hopkin, R. J. (2009). Characterization of congenital anomalies in individuals with choanal atresia. Archives of Otolaryngology--head & Neck Surgery, 135(6), 543-7. https://doi.org/10.1001/archoto.2009.53
Burrow TA, et al. Characterization of Congenital Anomalies in Individuals With Choanal Atresia. Arch Otolaryngol Head Neck Surg. 2009;135(6):543-7. PubMed PMID: 19528400.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Characterization of congenital anomalies in individuals with choanal atresia. AU - Burrow,T Andrew, AU - Saal,Howard M, AU - de Alarcon,Alessandro, AU - Martin,Lisa J, AU - Cotton,Robin T, AU - Hopkin,Robert J, PY - 2009/6/17/entrez PY - 2009/6/17/pubmed PY - 2009/7/16/medline SP - 543 EP - 7 JF - Archives of otolaryngology--head & neck surgery JO - Arch. Otolaryngol. Head Neck Surg. VL - 135 IS - 6 N2 - 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. SN - 1538-361X UR - https://www.unboundmedicine.com/medline/citation/19528400/Characterization_of_congenital_anomalies_in_individuals_with_choanal_atresia_ L2 - https://jamanetwork.com/journals/jamaotolaryngology/fullarticle/10.1001/archoto.2009.53 DB - PRIME DP - Unbound Medicine ER -