Proboscis Lateralis With Choanal Atresia.

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.

Empirical overview of a delayed diagnosis of bilateral congenital choanal atresia in an adolescent male: management with 'coblation-assisted surgery'.

Bilateral choanal atresia (CA) is a congenital anomaly consisting of an imperforated choana that leads to newborn fatalities but, if unilateral, may go unnoticed for many years. Bilateral CA occurring without significant symptoms and remaining undiagnosed for many years is rare. This case report identifies an adolescent male with bilateral CA who remained undiagnosed till adolescence. The patient presented with isolated complaints of chronic nasal obstruction and discharge and was diagnosed with bilateral CA by endoscopic and radiological evaluation. The patient underwent a coblation-assisted endoscopic CA repair, with a crossover mucoperiosteal flap technique, without stenting and with a successful outcome.

Unilateral Choanal Atresia: Indications of Long-Term Olfactory Deficits and Volumetric Brain Changes Postsurgically.

BACKGROUND: Very few studies have investigated whether unilateral choanal atresia is associated with permanent olfactory deficits. OBJECTIVE: This study aimed to evaluate the olfactory performance of patients with unilateral choanal atresia postsurgically. METHODS: Three patients with unilateral atresia were examined in terms of olfactory performance with the Sniffin' Sticks test (odor identification, threshold, and discrimination), size of the olfactory bulb, and volumetric brain changes. RESULTS: All patients demonstrated significantly lower olfactory performance in terms of odor threshold on the same side with the choanal atresia. Grey matter reductions were found ipsilaterally in the hippocampus. CONCLUSIONS: This pilot study indicates that persistent olfactory deficits and volumetric brain changes are present in patients with unilateral choanal atresia.

Atresia de coana bilateral en adulto con malformación craneofacial asociada: un diagnóstico poco habitual / Bilateral choanal atresia in adult with associated craneofacial malformation: an unusual diagnosis

La atresia de coana es una rara malformación congénita improbable de encontrar de forma bilateral en un adolescente o adulto. Hasta la fecha, no se ha descrito ningún caso de atresia bilateral en un adulto con una malformación asociada de cabeza y cuello que haya requerido tratamiento conjunto. El tratamiento de elección de la atresia de coana bilateral continúa siendo la cirugía endoscópica, con controversia en el uso intraoperatorio de mitomicina o la colocación de stents para evitar estenosis. Lo que no está claro es el orden de tratamiento y la simultaneidad del procedimiento si se asocian otras posibles patologías que tengan una indicación quirúrgica. Presentamos un caso clínico que cumple con todos estos requisitos.

Choanal atresia is a rare congenital malformation that is unlikely to be found bilaterally and is seldom diagnosed in adulthood. To date, no clinical case of bilateral atresia has been described with a head and neck malformation that requires surgical treatment in an adult. The preferred treatment is still endoscopic sinonasal surgery with discrepancies of the use or not of intraoperative topical mitomycin or the placement of stents to avoid restenosis. What is not clear is the order of treatment and simultaneity of the procedure with other possible associated pathologies that have a surgical indication. We present a clinical case that meets all these requirements.

Accessory Nostril Associated With Choanal Atresia.

ABSTRACT: Accessory nostril or supernumerary nostril is one of the rare congenital deformities of the nose. The first case was reported by Lindsay B (1906),1 since then 42 cases have been reported in the literature. There is no uniform surgical approach to treat this anomaly. The authors present a child with left side accessory nostril with bilateral choanal atresia and describe our surgical approach.

Congenital bilateral choanal atresia: an endoscopic approach with multi-flaps supported by neuronavigated CT.

We present a case of a 2-month-old patient with CHARGE syndrome, cerebral haemorrhage and bilateral congenital choanal atresia (CCA). He was admitted to our otorhinolaryngology unit to solve his congenital bilateral choanal atresia proposing a transnasal endoscopic surgery. A study of CT of the skull showed that the air column was interrupted on both sides of nasal cavities; a nasal endoscopy with neonatology flexible optics showed the presence of a membrane and bony structure obstructing the passage into the nasopharynx. Preoperative brain magnetic resonance (MRN) has been made. We decided to carry out a transnasal endoscopic neuronavigation approach with multi-flaps without stenting apposition to solve the CCA, using a 0° 2.7-millimetre rigid endoscopic and Skeeter-type drill with a 2.3-millimetre microblade cutter. Postoperative nasal care was essential to avoid recurrences. Endoscopic follow-up was performed; a large uni-neochoane was residual at 3 months, all raw surfaces were covered by multiple mucosal flaps welded with fibrin.

[Congenital complete bony unilateral atresia of the left choana in a 30-year-old woman]. / Vrozhdennaya polnaya kostnaya odnostoronnyaya atreziya levoi khoany u zhenshchiny 30 let.

According to literature, the average age of children with unilateral atresia of the choan is six years nine months. Unilateral complete atresia of the choan makes it difficult to diagnose early: the initial diagnosis can be established in the second year of life and later, already at school age. In Russian and foreign literature in recent years, cases of diagnosing congenital atresia of choanomas in older children are known, the maximum age of children is 17-18 years, it is noted that such cases are very rare. The article describes the case of congenital unilateral complete bone atresia of the choan in a woman of 30 years. The patient underwent a complete otorhinolaryngological examination and endoscopic choanotomy with the installation of a silicone stent in the hole formed.

Nasal Cavity CT Imaging Contribution to the Diagnosis and Treatment of Choanal Atresia.

Background and Objectives: Choanal atresia is the most common congenital malformation of the nose. Materials and Methods: We have evaluated 24 CT images of children with choanal atresia treated at the Department of Pediatric Otorhinolaryngology FM CU and the NICD Bratislava (Slovakia). In accordance with the methodology used by Slovis et al. (1985), we have measured parameters related to anomalous development in the nasal cavity: vomer width, the width of soft atresia and the width of the air space of unilaterally developed choana. Results: In the group of 24 patients, 11 (46%) were male and 13 (54%) were female. The age of patients at the time of CT imaging varied. Associated syndromes had been manifested in 11 (46%) children, with 7 (29%) patients having CHARGE syndrome. In 13 (54%) cases it was a bone membranous type of atresia, in 8 (33%) cases a membranous type, and in 3 (13%) patients a bone type. Among the group of patients, unilateral disorder was present in 13 (54%) patients and bilateral in 11 (46%). Based on the Pearson's correlation test, we have found in the studied group that the width of the vomer correlates with age, and the vomer is wider in bone atresia than in the membranous ones. Based on determining the average vomer's width within the age groups 0-8 and >8-20, compared to the standard widths, we found that the vomer's widths reached the upper limits of the standard ±2 SD (cm) or even exceeded that limit. The same applies to the width in soft choanal atresia. On the other hand, the width of the developed choana in the case of unilateral atresia is almost standard. Conclusions: The above findings are the basis for selecting the appropriate type of surgery. Currently, the gold standard is the endoscopic fenestration. associated with posterior septotomy.

Pediatric unilateral isolated choanal atresia is not associated with mandibular condyle hypoplasia.

PURPOSE: We hypothesized that the ontogeny of unilateral isolated choanal atresia involves a field defect manifesting as ipsilateral mandibular condylar hypoplasia. The topic is important because the mechanism of the unilateral isolated choanal atresia is unknown. MATERIALS AND METHODS: Retrospective self-controlled case series. We included 20 patients (2 males and 18 females, ages 2 weeks to 13 years) with unilateral isolated non-syndromic choanal atresia. We studied their high-resolution computed tomographic scans. Two otolaryngologists measured the largest cross-sectional area of the mandibular condyle in the axial plane perpendicular to the posterior border of each mandibular ramus independently. Statistical significance and inter-rater agreement were calculated with paired Wilcoxon rank sum test and Spearman's non-parametric correlation coefficient respectively. RESULTS: Cross-sectional areas of the condyles ipsilateral to the choanal atresia were not statistically different than those of the contralateral condyle (P = 0.27). Inter-observer agreement of condyle areas was excellent: Spearman's r = 0.85 on the right and r = 0.94 on the left. CONCLUSIONS: In this cohort of children with the rarity of isolated non-syndromic unilateral congenital choanal atresia, no associated mandibular condyle hypoplasia was found. The data suggest that the underlying ontogeny was unlikely attributable to a field defect.

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway.

Solitary median maxillary central incisor syndrome (SMMCI) is a rare congenital oronasal-dental midline anomaly. The aim of this paper is a presentation of a patient with SMMCI without other visible dentofacial anomalies, with a potentially new molecular etiology consisting of a gene-gene reaction and conservative therapeutic approach to nasal obstruction. Potentially pathogenic variants in the SMO gene (p.Gly422Glu) and in P2RY13 gene (p.Trp205*) inherited from the probant's father, and in the PLD2 gene (p.Gln319fs), inherited from the mother were found. A multidisciplinary approach is necessary for the management of patients with SMMCI, including a genetic consultation with genetic tests.

[Causes of restenosis in the surgical treatment of congenital choanal atresia in children]. / Prichiny restenozirovaniya pri khirurgicheskom lechenii vrozhdennoi atrezii khoan u detei.

This article presents the literature data and our own findings on the surgical treatment congenital atresia of the choanae (CAC) in children. AIM: To find the causes of restenosis after a choanotomy in children with CAC. PATIENTS AND METHODS: We analyzed the results of surgical treatment of 144 children with the use of an endoscopic transnasal technique (n=94) and without using endoscopy (n=67). In patients with signs of restenosis, endoscopic revision of the choanal opening, computed tomography results clarifying the anatomy of the abnormal zone, anamnestic data, and the presence of concomitant pathology were assessed. RESULTS: The primary causes of the recurrence of the CAC are the concomitant anatomical features of the structure of the choanal zone, insufficient period of protector insertion in the postoperative period, and surgical intervention without visual control. CONCLUSION: Endoscopic transnasal choanotomy with intraoperative rhino- and epipharingoscopic imaging, which is performed taking the individual characteristics of the anatomy of the anomalous zone into account, is the most optimal surgical procedure in pediatric patients. In combination with the use of a protector with a distal extended zone, high efficiency and rarity of restenosis are achieved.

Choanal Atresia and Other Neonatal Nasal Anomalies.

Congenital nasal deformities can cause nasal obstruction with early respiratory distress. Choanal atresia is characterized by no communication between the nasal cavity and nasopharynx. Pyriform aperture stenosis involves more anterior nasal obstruction with limited intranasal space. Nasal masses such as encephaloceles, gliomas, and dermoids are thought to be related through a skull base defect in utero. Imaging with computed tomography and MRI are helpful in distinguishing lesions and identifying intracranial communication. Nasolacrimal duct cysts can get infected and cause obstruction. Nasal septal deviation can be corrected at bedside if detected early. Evaluation and treatment are discussed with all these entities.

[Diagnostics and management of choanal atresia]. / Diagnostik und Management der Choanalatresie.

Choanal atresia is a rare malformation that represents a special challenge. While bilateral choanal atresia usually needs to be surgically treated within a few days of birth, the intervention for one-sided choanal atresia can be postponed for years. Treatment planning requires adequate imaging (CT or MRI), which also serves to exclude other skull base malformities. Surgical treatment currently focuses on transnasal endoscopic techniques. Simultaneous resection of the parts of the vomer involved in the atresia seems to be important surgical success. Postoperative stenting is still controversially discussed. Postoperative application of corticosteroid nasal sprays and saline nasal rinsing for several weeks is of great importance. Due to the rarity of the diagnosis, the absence of prospective randomized controlled trials does not allow definitive statements regarding the optimal surgical technique or stenting.

Early Transient Prenatal Ultrasound Features of Choanal Atresia.

We present a case series of early second-trimester prenatal ultrasound (US) features in 4 fetuses with a confirmed diagnosis of choanal atresia. The clinical characteristics and outcomes evaluated included prenatal US findings, genetic analyses, postmortem autopsies (2 cases), and computed tomographic findings. A transient large nasal cavity was detected by US in all 4 fetuses. This finding disappeared a few weeks later. Three cases were unilateral choanal atresia, and 1 was bilateral. Transient enlargement of the nasal cavity in early pregnancy appears to be a US sign of choanal atresia.

Use of a novel surgical approach for treatment of complete bilateral membranous choanal atresia in an alpaca cria.

CASE DESCRIPTION A 4-hour-old 6.3-kg (13.9-lb) female alpaca cria was evaluated because of severe respiratory distress and difficulty nursing since birth. CLINICAL FINDINGS The cria had open-mouth breathing and cyanotic membranes, with no airflow evident from either nostril. Supplemental oxygen was delivered, and the patient was anesthetized and intubated orotracheally; a CT evaluation of the head confirmed bilateral membranous obstruction of the nasal cavities, consistent with complete bilateral choanal atresia. TREATMENT AND OUTCOME Choanal atresia was treated with an endoscopically assisted balloon-dilation technique, and temporary tracheostomy was performed. Stenosis recurred, requiring revision of the repair and intranasal stent placement 3 days after the first surgery. The tracheostomy tube was removed the next day. Complications during hospitalization included mucoid obstruction of the tracheostomy tube, granulation tissue development in the trachea near the tracheostomy site, mucoid stent obstruction, aspiration pneumonia, and presumed partial failure of passive transfer of immunity. The stents were removed 2 weeks after admission, and the cria was discharged 3 days later. The owner was advised that the animal should not be bred. At last follow-up 3 years later, the alpaca was doing well. CLINICAL RELEVANCE Surgical treatment with a balloon-dilation technique and placement of nasal stents with endoscopic guidance were curative in this neonatal alpaca with bilateral membranous choanal atresia. Computed tomography was useful to determine the nature of the atresia and aid surgical planning. Because a genetic component is likely, owners should be advised to prevent affected animals from breeding.