Choanal atresia

The work illustrates a step-by-step surgical approach to demonstrate technical feasibility of a single-stage endoscopic repair for bilateral choanal atresia with adjuvant bioabsorbable steroid-eluting stent placement to safely mitigate unique perioperative challenges in the pediatric population. Laryngoscope, 2024.

OBJECTIVE: Crouzon syndrome with acanthosis nigricans (CAN) is caused by the specific mutation c.1172C>A (p.Ala391Glu) in the fibroblast growth factor receptor 3 gene, and has an estimated prevalence of 1:1,000,000 births. Most cases occur de novo; however, autosomal dominant inheritance may occur. The clinical presentation typically includes craniosynostosis, midface and maxillary hypoplasia, choanal atresia/stenosis, hydrocephalus, and intracranial hypertension. Patients develop acanthosis nigricans, a hyperkeratotic skin disorder...

BACKGROUND: The ultra-rare autosomal recessive genetic disorder, You-Hoover-Fong Syndrome (YHFS), is caused by defects in the TELO2 gene and is characterized by intellectual disability, developmental delay, and ocular impairments. This study aims to contribute to a better understanding of YHFS by reviewing previous cases and introducing a novel variant in a new case. METHODS: Whole exome sequencing (WES) was conducted on the proband to identify genetic variants, and Sanger sequencing was used to confirm variants within the family...

OBJECTIVES: To depict the novel use of steroid-eluting stents in the treatment of choanal atresia (CA) restenosis and subglottic stenosis (SGS). METHODS: A retrospective chart review of three pediatric patients, one with CA and two with SGS, treated with mometasone furoate eluting mini stents (PROPEL) was performed. Patients were evaluated for restenosis and adverse events between one to twelve months postoperatively. RESULTS: Postoperatively, patient one with CA showed no signs of restenosis and required no further intervention...

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)...

Choanal atresia occurs in about 1 in 5000 births and is associated with other structural and genetic abnormalities. Choanal atresia is usually diagnosed postnatally due to respiratory distress, and rarely diagnosed antenatally. Here, a woman with severe polyhydramnios is described, whose fetus was diagnosed antenatally with isolated bilateral choanal atresia, as evident by persistent absence of flow through the nostrils on ultrasound. A literature review is presented of the antenatal findings of choanal atresia, using ultrasound and other imaging modalities...

Congenital choanal atresia results from the developmental failure of the nasal cavity to connect posteriorly with the nasopharynx. Although congenital choanal atresia is a well-recognized developmental disorder, it is an uncommon condition with an overall incidence of approximately 1 per 10,000 live births. The authors aim to highlight that in very preterm neonates, early diagnosis of bilateral congenital choanal atresia needs a high index of suspicion to avoid life-threatening events. It is considered as one of the neonatal emergencies, and repair is recommended in the first few weeks of life...

BACKGROUND: Various surgical techniques using transpalatinal, transseptal, and transnasal approaches for surgical repair of choanal atresia have been developed over the past 200 years. Endoscopic endonasal surgery with resection of dorsal septal parts and without the use of stents is the current scientific trend, as high success rates with low complication rates can be achieved. This study examined whether this technique has actually become standard in Germany, and also investigates the role played by stents...

Introduction : Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. Case report: We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis...

OBJECTIVES: Off-label use of Ciprodex® (ciprofloxacin-dexamethasone: CPD), an antibiotic-steroid combination solution, in the airway has been reported by pediatric otolaryngologists with anecdotal success. We examined national trends regarding off-label CPD use including prevalence, common indications, prescriber patterns, adverse events, and accessibility. METHODS: 15-item cross-sectional survey was distributed to American Society of Pediatric Otolaryngology members from January-April 2022...

Congenital abnormality of the nasal cavities called choanal atresia is characterized by a loss of patency at the posterior extremities of one or both nasal canals. It is the most frequent congenital nasal cavity abnormality. A third of cases with choanal atresia occur bilaterally, and due to respiratory difficulty in the newborn period, it is almost always diagnosed. Bilateral choanal atresia has rarely been identified in adults and is very uncommon. We describe the case of an adolescent girl who suffered from bilateral choanal atresia after presenting with persistent nasal congestion, snoring, and an inability to breathe through her nose...

Choanal atresia is a rare congenital anomaly in humans and animals, characterized by the absence of communication of one or both nasal cavities with the nasopharynx. The severity of clinical signs depends on the presence of unilateral versus bilateral stenosis as well as comorbidities. With bilateral atresia, respiration may be severely compromised particularly during sleep, as airflow can only occur when breathing through the open mouth. Various therapeutic modalities have been described in people and adopted for animals...

The case of a female patient who was born with proboscis lateralis, choanal atresia, and telecanthus is submitted. A report is made on the initial management of this patient, the clinical follow-up that has been carried out so far, and a review of the literature is conducted, taking into account the limited information found in this specific pathology, in order to contribute to its diagnostic orientation and treatment from a plastic and craniofacial surgery point of view.

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of neonatal stridor and airway obstruction. In this case report we present management of congenital CNPAS in an eight day old female child. Inability to pass nasogastric tube (of size 5Fr) raised suspicion of choanal atresia or pyriform aperture (PA) stenosis (PAS). Computed tomography scan of the paranasal sinuses is the investigation of choice. Transnasal endoscopic dilatation and stenting with ngt of 8Fr under general anaesthesia was done...

Choanal atresia is a rare congenital disorder characterised by anatomical closure of the posterior choana in the nasal cavity due to failed recanalization during foetal development. The main aim of our study is to focus on our experience with choanal atresia and its management. In this study, we are discussing the prospective study of 12 cases of choanal atresia that came to a tertiary hospital from July 2017 to July 2022. All 12 choanal atresia cases underwent thorough evaluation, including history, blood investigations, nasal endoscopy, and CT scanning...

PURPOSE: To evaluate the outcome of a routine postoperative endoscopic micro-debridement of granulation tissue after stentless transnasal endoscopic repair of choanal atresia (CA). METHODS: This prospective case series included congenital CA patients who underwent stentless transnasal endoscopic repair, followed by an endoscopic second look and micro-debridement of granulation tissue at 1-2 weeks post-repair. Patients were followed every three months for assessment of nasal airway symptoms and objective evaluation by flexible nasolaryngoscopy...

INTRODUCTION: Children with syndromic craniosynostosis are known to have a high propensity for associated airway abnormalities. However, this has not been investigated using a large-scale national database. METHODS: For this retrospective cohort study, the 2016 Healthcare Cost and Utilization Project Kid's Inpatient Database was queried for craniosynostosis patients. Data on demographics, airway diagnoses, and comorbidities were analyzed. RESULTS: Four thousand nine hundred fourteen children with craniosynostosis with a mean age of 1...

Choanal atresia (CA) is a rare congenital anomaly of the nasal airway with an incidence of 1/5000 to 1/9000, which may occur unilateral (uCA) or bilateral (bCA). bCA manifests as an acute emergency immediately after birth by airway obstruction and paradoxical cyanosis, whereas uCA may present with a heterogeneous clinical picture in addition to unilateral nasal airway obstruction. Fiber endoscopic examination and cranial computed tomography are the gold standard in the diagnosis of CA. CA often occurs in association with congenital malformation syndromes, among which CHARGE syndrome stands out...

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare neonatal entity characterized by a reduction in the pyriform orifice of the nasal cavity. Because of its nonspecific clinical presentation as respiratory distress symptoms, it can mimic choanal atresia. Although isolated forms have been described, CNPAS is often associated with other congenital midline malformations. A single median incisor is usually found, with or without other cervical and maxillofacial malformations. The existence of hypothalamic-pituitary axis malformations with endocrine disorders is also possible and, in some cases, a moderate to severe intellectual deficit in association with other brain malformations...

BACKGROUND: Congenital Choanal Artesia (CCA) is a rare cause of upper airway obstruction, yet it is the most common congenital anomaly of the nose. While the unilateral condition could be undiagnosed, bilateral CCA may be life-threatening, especially for newborns. Some CCA may be associated with other congenital abnormalities, which leads to a systematic screening during the diagnostic assessment. The diagnosis is easy. However, surgical management is still controversial. METHODS: We conducted a retrospective study gathering data on management of CCA over 42 months...