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

Choanal atresia and stenosis are common causes of congenital nasal obstruction, but their epidemiology is poorly understood. Compared to bilateral choanal atresia/stenosis, unilateral choanal atresia/stenosis is generally diagnosed later and might be under-ascertained in birth defect registries. Data from the population-based Texas Birth Defects Registry and Texas vital records, 1999-2018, were used to assess the prevalence of choanal atresia/stenosis. Poisson regression models were used to evaluate associations with infant and maternal characteristics in two analytic groups: isolated choanal atresia/stenosis (n = 286) and isolated, bilateral choanal atresia/stenosis (n = 105). The overall prevalence of choanal atresia/stenosis was 0.92/10,000, and the prevalence of isolated choanal atresia/stenosis was 0.37/10,000 livebirths. Variables associated with choanal atresia/stenosis in one or both analytic groups included infant sex, pregnancy plurality, maternal race/ethnicity, maternal age, and maternal residence on the Texas-Mexico border. In general, adjusted prevalence ratios estimated from the two analytic groups were in the same direction but tended to be stronger in the analyses restricted to isolated, bilateral defects. Epidemiologic studies of isolated choanal atresia/stenosis should consider focusing on cases with bilateral defects, and prioritizing analyses of environmental, social, and structural factors that could account for the association with maternal residence on the Texas-Mexico border.

Acquired nasopharyngeal stenosis after radiation treatment for nasopharyngeal carcinoma.

INTRODUCTION: Nasopharyngeal stenosis (NPS) is a rare and morbid complication following radiation therapy for nasopharyngeal carcinoma. This review provides an update on management and prognosis. METHODS: A comprehensive PubMed review using the terms "nasopharyngeal stenosis," "choanal stenosis," and "acquired choanal stenosis" was performed. RESULTS: Fourteen studies identified 59 patients who developed NPS after radiotherapy for NPC. 51 patients underwent endoscopic nasopharyngeal stenosis excision by cold technique (80-100% success). The remaining 8 underwent carbon dioxide (CO2) laser excision with balloon dilation (40-60% success). Adjuvant therapies included postoperative topical nasal steroids in 35 patients. The need for revision was 62% in the balloon dilation group, vs 17% in the excision group (p-value <0.01). CONCLUSION: When NPS occurs after radiation, primary excision of scarring is the most effective method of management with less need for revision surgery relative to balloon dilation.

Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.

Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other minor and major malformations. Monoallelic or biallelic PLCB4 variants have been reported in a subset of affected individuals, referred to as ARCND2. We report on a 3-year-old female with ARCND who presented at birth with question mark ears, micrognathia, and bilateral choanal stenosis that was characterized by difficulty in breathing. She was found to be heterozygous for a novel PLCB4 variant, p.Glu358Gly. Respiratory distress is rare in autosomal dominant ARCND2 and choanal stenosis has not been reported. Our study expands the clinical phenotype of ARCND by adding choanal stenosis as a finding and suggests that PLCB4 play a role in the development of choanal structures.

Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant.

Raine syndrome (RS) is a rare genetic disorder characterized by osteosclerotic bone dysplasia caused by a homozygous mutation, compound heterozygous mutation, or microdeletion in the FAM20C gene. In the present study, the MiSeq next-generation sequencing platform was used to perform the FAM20C gene sequence analysis. A novel homozygous variant c.1255T>C (p.W419R) in the FAM20C gene was diagnosed, and a nonlethal RS phenotype was confirmed, thus contributing to the expansion of the nonlethal RS phenotype. Since there is limited information about rare diseases, we believe that these studies will contribute to the literature and to the understanding of how these disorders develop and progress.

Congenital nasal piriform aperture atresia: A case report and novel finding.

Congenital nasal piriform aperture stenosis and choanal atresia are types of nasal obstructions that can be life threatening to infants if left untreated. While there has been numerous reports on both of them there has not been a single reported case of congenital nasal piriform aperture atresia. Here, we present the first case of piriform aperture atresia that includes the diagnostic and clinical approach.

Dosimetric parameters predict radiation-induced choanal stenosis in patients with nasopharyngeal carcinoma.

BACKGROUND: Radiation-induced choanal stenosis (RICS) severely decreases life quality of patients with nasopharyngeal carcinoma (NPC) and originates from nasal mucositis, which depends on radiation dose. This self-controlled study aimed to find the correlations between dosimetric parameters and RICS. METHODS: Totally 49 NPC patients treated with intensity-modulated radiotherapy from May 2010 to Aug. 2013 and diagnosed with RICS during follow-up were enrolled into this study. Minimum point dose, maximum point dose, mean dose (Dmean), dose covering ≥33% volume (D33), dose covering ≥66% volume (D66), and volume receiving ≥60 Gy (V60) were compared between the nasal cavities with and without RICS, through paired t-test. The parameters with difference would enter receiver operating characteristic analysis to determine their cutoff values. Then predicting abilities of the cutoff values were tested by Chi-square test. RESULT: The nasal cavities with RICS appeared to have higher Dmean, D33, D66 and V60, compared with those without RICS (P values were 0.014, 0.003, 0.006 and 0.010). Dmean ≥54.22 Gy, D33 ≥ 61.96 Gy, D66 ≥ 46.50 Gy and V60 ≥ 48.13% were demonstrated to be related with a higher risk of RICS. CONCLUSION: Dmean, D33, D66 and V60 of nasal cavity might be used as predictors of RICS. Their values needed to be controlled whenever possible, for ameliorating life quality of NPC patients.

Choanal stenosis post radiotherapy for nasopharyngeal carcinoma: about an endoscopic management.

Choanal atresia is a rare complication of radiation for nasopharyngeal carcinoma, which has to be early detected. Its treatment is based on endoscopic endonasale surgery. We report a rare case of choanal stenosis observed in a 54-year-old patient, Ho presented 4 years after the end of radiotherapy for nasopharyngeal carcinoma, a progressive bilateral nasal obstruction, anosmia, and rhinorrhea without bleeding. The diagnostic of fibrous stenosis was confirmed by endonasal endoscopic examination coupled to CT scan of nasopharynx. The recanalization via endoscopic endonasal surgery with tube calibration gave a great functional result with the improvement of nasal symptoms. Even after 6 months of follow-up, there were no signs of restenosis.

Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex. We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of reported CSS patients, we expand the phenotype to include neonatal and infantile hypertonia and upper airway obstruction. The propositus had a novel de novo heterozygous missense mutation in exon 17 of SMARCA4 (NM_001128849.1:c.2434C>T (NP_001122321.1:p.Leu812Phe)). This is the first reported mutation within motif Ia of the SMARCA4 SNF2 domain. In summary, SMARCA4-associated CSS is a pleiotropic disorder in which the pathognomic clinical features evolve and for which the few reported individuals do not demonstrate a clear genotype-phenotype correlation.

Delayed Sino-nasal Complications of Radiotherapy for Nasopharyngeal Carcinoma.

OBJECTIVE: There are only sporadic reports of delayed sino-nasal complications associated with nasopharyngeal carcinoma (NPC) treated with radiotherapy. These include choanal stenosis, osteoradionecrosis, chronic sinusitis, and intranasal synechiae. Most likely, these complications are underestimated as in many institutions nasal endoscopies in NPC patients are not performed routinely. The aim of this study was to identify the onset and incidence of delayed sino-nasal complications in NPC patients and their effect on quality of life (QOL). STUDY DESIGN: Case series with chart review. SETTING: Tertiary medical center. SUBJECTS AND METHODS: A retrospective chart review was performed on all patients treated for NPC in our institution between 1988 through 2009. The inclusion criteria required at least a 3-year follow-up without recurrence. Included patients were contacted prospectively and asked to fill a SNOT-16 questionnaire. RESULTS: Sixty-two patients were included in our review. There were 42 males and 20 females. The average age at onset was 42 years. The AJCC staging for T1, T2, T3, and T4 tumors was 22 (35%), 11 (18%), 18 (29%), and 11 (18%), respectively. Eleven patients (18%) suffered from chronic sinusitis. Nine patients (15%) developed choanal stenosis. Five patients (8%) developed osteoradionecrosis. Two patients suffered from nasal synechiae. Forty-eight patients completed the SNOT-16 questionnaire. Patients with choanal stenosis had the lowest QOL scores out of the cohort. CONCLUSION: The incidence of delayed sino-nasal complications after radiation treatment for NPC is not negligible and should be kept in mind when addressing the quality of life of NPC survivors.