A national study of choanal atresia in tertiary care centers in Canada – part I: clinical presentation

Abstract

Background To evaluate the clinical presentation of choanal atresia (CA) in tertiary centers across Canada. Methods Multi-centre case series involving six tertiary care pediatric hospitals across Canada. Retrospective chart review of patients born between 1980 and 2010 diagnosed with CA at a participating center. Results The health charts of 215 patients (59.6% female) with CA were reviewed and included in this study. The mean age of patients at time of CA presentation was 0.4 months (range 0.1 to 7.2 months) for bilateral CA and 37.8 months (range 0.1 to 164.1 months) for unilateral cases. The most common presenting symptoms for bilateral CA in decreasing order were respiratory distress (96.4%), feeding difficulties (68.2%), and rhinorrhea (65.5%), and for unilateral cases in decreasing order were rhinorrhea (92.0%), feeding difficulties (24.7%), and respiratory distress (18.0%). For the majority of patients (73.2%), the obstruction comprised mixed bony and membranous tissue, with only 10.5% presenting with a purely membranous obstruction. Familial history of CA was confirmed in only 3.3% of cases. One half of patients with CA presented with one or more associated anomalies and 30.6% had a syndrome. Conclusions The present investigation is the first national multi-institutional study evaluating the clinical presentation of CA over three decades. The present cohort of CA patients presented with a breadth of co-morbidities with highly variable presentations, with bilateral cases being more severely affected than unilateral cases. Further investigation into hereditary linkages to CA development is warranted. Graphical abstract

Characteristics of Choanal Atresia in Patients With Congenital Anomalies: A Retrospective Study

“…In our sample, we had four patients diagnosed with syndromes, namely, Crouzons, trisomy 21, Alfie, and Treacher-Collins. These showed lower occurrence of associated syndromes than reported in literature [13].…”

Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999–2018

“…In addition, cases in the Multiple subgroup were described, using counts and proportions, for the number and type of additional co‐occurring CHARGE‐related birth defects (e.g., coloboma). CHARGE‐related birth defects were evaluated because CHARGE is the most common syndrome in cases with choanal atresia/stenosis (Case & Mitchell, 2011; Paradis et al, 2021a). Further, a diagnosis of CHARGE syndrome may be made after the TBDR ascertainment period of 1 year or may not be documented in the facilities reviewed by the TBDR staff (e.g., the TBDR does not review records from private medical practices).…”

“…Choanal atresia/stenosis can occur unilaterally or bilaterally. Common presenting symptoms include respiratory distress, feeding difficulties, and rhinorrhea, although the frequency of these symptoms varies by laterality (Paradis et al, 2021a). Cases with bilateral choanal atresia present with respiratory distress soon after delivery because neonates breathe primarily through the nose.…”

“…Based on a multicenter study of 215 cases in Canada, 1980–2010, the mean age at presentation was less than 1 month for cases with bilateral defects. In contrast, the mean age at presentation for cases with unilateral defects was over 1.5 years (Paradis et al, 2021a). Choanal atresia/stenosis is treated surgically, but restenosis, requiring revision surgeries, is common (Paradis et al, 2021b).…”

“…Some cases with choanal atresia/stenosis occur in association with chromosomal or other malformation syndromes and sequences (reviewed in Kurosaka, 2019). CHARGE syndrome (CHARGE is an acronym based on the common features of this syndrome: C oloboma, H eart defects, A tresia of the choanae, R enal (genitourinary) abnormalities and E ar anomalies/deafness (Pagon et al, 1981)) is the most frequent syndromic diagnosis associated with choanal atresia/stenosis, and occurs in 10%–16% of individuals with choanal atresia/stenosis (Case & Mitchell, 2011; Paradis et al, 2021a). Most instances of CHARGE syndrome are due to pathogenic genetic variants in chromodomain helicase DNA binding domain 7 ( CHD7 , OMIM *608892) (Legendre et al, 2017; Vissers et al, 2004).…”