Congenital Nasal Anomalies Research Articles

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.

Facioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: SMCHD1. The mechanism underlying this phenotypic divergence remains unclear. In this study, we characterize the neuromuscular phenotype of individuals with arhinia caused by SMCHD1 variants and analyze their complex genetic and epigenetic criteria to assess their risk for FSHD2. Eleven individuals with congenital nasal anomalies, including arhinia, nasal hypoplasia, or anosmia, underwent a neuromuscular examination, genetic testing, muscle ultrasound, and muscle MRI. Risk for FSHD2 was determined by combined genetic and epigenetic analysis of 4q35 haplotype, D4Z4 repeat length, and methylation profile. We also compared expression levels of pathogenic DUX4 mRNA in primary myoblasts or dermal fibroblasts (upon myogenic differentiation or epigenetic transdifferentiation, respectively) in these individuals vs those with confirmed FSHD2. Among the 11 individuals with rare, pathogenic, heterozygous missense variants in exons 3-11 of SMCHD1, only a subset (n = 3/11; 1 male, 2 female; age 25-51 years) met the strict genetic and epigenetic criteria for FSHD2 (D4Z4 repeat unit length <21 in cis with a 4qA haplotype and D4Z4 methylation <30%). None of the 3 individuals had typical clinical manifestations or muscle imaging findings consistent with FSHD2. However, the patients with arhinia meeting the permissive genetic and epigenetic criteria for FSHD2 displayed some DUX4 expression in dermal fibroblasts under the epigenetic de-repression by drug treatment and in the primary myoblasts undergoing myogenic differentiation. In this cross-sectional study, we identified patients with arhinia who meet the full genetic and epigenetic criteria for FSHD2 and display the molecular hallmark of FSHD-DUX4 de-repression and expression in vitro-but who do not manifest with the typical clinicopathologic phenotype of FSHD2. The distinct dichotomy between FSHD2 and arhinia phenotypes despite an otherwise poised DUX4 locus implies the presence of novel disease-modifying factors that seem to operate as a switch, resulting in one phenotype and not the other. Identification and further understanding of these disease-modifying factors will provide valuable insight with therapeutic implications for both diseases.

Congenital Aplasia of Lower Lateral Cartilage, the Reconstruction via Closed (Endonasal) Rhinoplasty Approach

Congenital nasal anomalies are rare. Hypoplasia and atrophic anomalies represent the most common class of congenital nasal anomalies. A 27-year-old female presented with obvious right nostril asymmetry, alar notching, and retraction. The patient underwent a closed (endonasal) septorhinoplasty approach under general anesthesia. The lower lateral cartilage exposed by the cartilage delivery technique was discovered the absence of right lower lateral cartilage. In this case, reconstruction was performed by using two grafts the resected cephalic portion of lateral crura of left lower cartilage as medial crus and harvested septal cartilage as lateral crus, with satisfactory functional and cosmetic results.

Endonasal choanal atresia repair; evaluating the surgical results of 58 cases.

Choanal atresia is the most common congenital nasal anomaly, with an incidence of 1:5000-1:8000 live births. Atresia can be seen as membraneous, bony or mixed type. When it is bilateral, it is accepted lifethreatening, therefore bilateral atresia necessitates immediate intervention. Diagnosis is confirmed by endoscopic examination and computed tomography. The absolute treatment is surgical, and different approaches have been proposed. Herein, we describe our 15-year experience in the treatment of 58 patients of congenital choanal atresia with transnasal endoscopic approach, and we compare the efficacy of placement of an intranasal stent and applying mitomycin while endoscopic microsurgical repair. The study included 41 female patients (71%) and 17 male patients (29%) with congenital CA. The mean age was 3 years ranging from 10 days to 16 years. The atretic plate was bilateral in 24 patients (41%) and unilateral in 34 (59%). The most common atresia type was the mixed type with 29 patients (50%). A total of 17 patients (29%) required postoperative revision(s). Postoperative revisions were more frequent among patients with bilateral CA (50%), and with mixed CA (31%). Stenting was used additionally by surgical correction for 10 patients. After stenting, fibrosis and restenosis was seen in 7 patients (79%). Mitomycin C was applied peroperatively in 8 patients. Restenosis after mitomycin application was seen in 4 patients (50%). By our experience, endoscopic microsurgical repair of atresia proved to be an effective and safe procedure, results compared with adjuvant treatment modalities like stent or mitomycin C use, was not better. Restenosis was the major problem seen after surgical correction.

Congenital nasal stenosis: a report of two cases

The human neonate is an obligate nasal breather for a variable period of time after birth. Congenital nasal airway anomalies are potentially dangerous if they are not immediately recognized at birth and if appropriate intervention is not instituted. Here, we report two clinical cases of congenital nasal stenosis seen in the Suez Canal University Hospital in Ismailia in 2016. Approval from our institutional ethics committee and consent from parents of the patients to publish the cases and their photos were obtained. Level of Evidence: 3b.

Transnasal repair of congenital choanal atresia

Choanal atresia is a relatively rare congenital nasal anomaly that must be repaired to allow infants to adequately breathe and feed. Techniques used in repair have evolved with the development of high-quality optical equipment, such that an endoscopic approach is now most commonly employed. Operative adjuncts include lasers, topical steroids, and stenting. Restenosis is common in the first few years, but this can be improved with dilation.

Congenital Midline Nasal Anomalies

Congenital midline nasal anomalies are rare, with a prevalence of 1 in 20,000 to 40,000 births and with 5% to 7% of them being nasal glioma. Differential diagnoses of nasal anomalies include nasal dermoid cysts, gliomas, encephaloceles, nasal polyps, and some other rare anomalies. Due to current medical technological advancements, most of these anomalies are easily correctable, though delaying management may lead to fatal effects. This report describes two cases–one of nasal glioma and one of nevus lipomatosus cutaneous superficialis–that presented as respiratory distress in a newborn. Approximately 10 to 20 cases of these two conditions have been described; notably, this is the second documented case of nevus lipomatosus cutaneous superficialis with nasal presentation.

Nose clefts: own experience of treatment with different types of congenital nasal anomalies

Background Nose cleft is a rare congenital malformation. According to the Tessier classification, it can appear as a part of craniofacial cleft numbers 0, 1, 2, or 3. However, it can also be observed as an isolated nose cleft. The aim of this study was to present our experience in the treatment of isolated cleft nasal deformity.

Classification of congenital nasal deformities: a proposal to amend the existing classification.

In the period of 20years, 191 patients with congenital nasal anomalies were treated in our health center. Type 1 defects were found in 124 patients, type 2 in 15, type 3 in 32 and type 4 in 20 patients. The nasal defect accompanying craniofacial syndrome is the most common type of nose malformation. The nose cleft is not always a part of craniofacial clefts; isolated forms of such malformations can occur. Vascular anomalies, due to different etiology, categorization and treatment, should not be recognized as nasal malformation.

Isolated Congenital Nasal Bifid Septum Separated by a Wide Layer of Soft Tissue.

Isolated Congenital Nasal Bifid Septum Separated by a Wide Layer of Soft Tissue.

Obstrucción nasal congénita por estenosis de la apertura piriforme. Serie de casos

Nasal obstruction in neonates is a potentially fatal condition due to their exclusive nasal breathing. The main cause is inflammatory or infectious rhinitis. Congenital, neoplastic, traumatic or iatrogenic causes are less frequent.Choanal atresia is the most common congenital nasal anomaly. A less common etiology of congenital nasal obstruction is pyriform aperture stenosis. Suspicion might arise in any newborn with varying degrees of stridor and respiratory distress, associated with the difficulty of passing a probe through anterior nares. Diagnosis should be confirmed by a computed tomography of the craniofacial massif. The therapeutic approach will depend on the severity of symptoms.We describe our experience with 5 patients with this condition, treated surgically using a sub-labial approach, and followed by nasal stenting.

A 20-Year Experience in Microsurgical Treatment of Choanal Atresia

Introduction and objectivesChoanal atresia is the most common congenital nasal anomaly. Diagnosis is confirmed by endoscopic examination and computed tomography. The definitive treatment is surgical, and different surgical techniques and approaches are used. We describe our experience in transnasal microsurgical treatment of congenital choanal atresia. MethodsWe retrospectively evaluated 49 patients with congenital choanal atresia operated in the Department of Respiratory Endoscopy over a period of 20 years. The clinical variables analysed were type of atretic plate, age at diagnosis and surgery, associated malformations, maternal history of hyperthyroidism treated with methimazole during pregnancy, mode of airway stabilisation before surgery, surgical technique, complications, and outcome. ResultsMixed bilateral choanal atresia was the most frequent (29 cases). Its incidence was higher in females (61.2%). Almost 51% of patients showed associated malformations, and 7 had a history of maternal hyperthyroidism treated with methimazole during pregnancy. The surgical procedure consisted of a transnasal microscopic approach and placement of a silicone endonasal stent for one to 12 weeks. Thirty-five patients required revision after surgery. Nine patients had complications. Suitable nasal ventilation was achieved in 46 patients (93.9%). One patient died of causes unrelated to the surgery. Two patients with permeable choanae remain with tracheotomy. ConclusionThe transnasal microsurgical repair with endonasal stent proved to be a safe and effective procedure.

Experiencia de 20 años en el tratamiento microquirúrgico de la atresia de coanas

Introduction and objectivesChoanal atresia is the most common congenital nasal anomaly. Diagnosis is confirmed by endoscopic examination and computed tomography. The definitive treatment is surgical, and different surgical techniques and approaches are used. We describe our experience in transnasal microsurgical treatment of congenital choanal atresia. MethodsWe retrospectively evaluated 49 patients with congenital choanal atresia operated in the Department of Respiratory Endoscopy over a period of 20 years. The clinical variables analysed were type of atretic plate, age at diagnosis and surgery, associated malformations, maternal history of hyperthyroidism treated with methimazole during pregnancy, mode of airway stabilisation before surgery, surgical technique, complications, and outcome. ResultsMixed bilateral choanal atresia was the most frequent (29 cases). Its incidence was higher in females (61.2%). Almost 51% of patients showed associated malformations, and 7 had a history of maternal hyperthyroidism treated with methimazole during pregnancy. The surgical procedure consisted of a transnasal microscopic approach and placement of a silicone endonasal stent for one to 12 weeks. Thirty-five patients required revision after surgery. Nine patients had complications. Suitable nasal ventilation was achieved in 46 patients (93.9%). One patient died of causes unrelated to the surgery. Two patients with permeable choanae remain with tracheotomy. ConclusionThe transnasal microsurgical repair with endonasal stent proved to be a safe and effective procedure.

Congenital Isolated Absence of the Nasal Membranous Septum

Congenital anomalies of the nasal septum, except septal deviation, constitute a small portion of all congenital nasal anomalies. Congenital isolated absence of the membranous septum has not been reported in the literature before. We present a man who has congenital defect of membranous septum and who underwent an augmentation rhinoplasty with costal cartilaginous graft for his flattened nose. Level IV therapeutic study.

Aesthetic correction of isolated congenital absence of nasal lower lateral cartilages

Isolated congenital nasal anomalies that cause remarkable aesthetic deformities are extremely rare, and only a few cases have been reported in the literature. In this study, we present the case of a patient with nonsyndromic congenital isolated absence of the nasal lower lateral cartilage and the subsequent esthetic surgical correction. A satisfactory result was achieved.

Congenital Agenesis of All the Nasal Cartilages

With the exception of septal deviation, congenital anomalies of the nasal cartilages constitute a small fraction of all congenital nasal anomalies. This report presents a patient with isolated agenesis of all the nasal cartilages, which has never been recorded previously. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.

Obstrucción nasal congénita por atresia de coanas. Serie de casos

Nasal obstruction in neonates is a potential fatal condition because of their exclusive nasal breathing. The most common congenital causes include choanal atresia, dermoid cyst, glioma and encephalocele. Choanal atresia is the most common congenital nasal anomaly. When bilateral, it presents with respiratory distress at birth. Unilateral atresia is manifested by respiratory failure and unilateral rhinorrhea, and may go along unnoticed. Diagnosis is suspected in the absence of airfow in the nasal cavity and for the inability to advance a nasogastric tube. Diagnosis is confirmed by endoscopic examination and computed tomography. The definitive treatment is surgical, and there are different techniques and surgical approaches. We describe our experience with 7 patients with this disease, successfully treated by transnasal endoscopic technique.

Isolated Congenital Partial Absence of the Left Lower Lateral Nasal Cartilage

Isolated congenital nasal anomalies are rare; the isolated absence of any specific nasal structure is even rarer. In this report, we present a patient with congenital isolated partial absence of the left lower lateral cartilage including only the lateral crura.

Congenital unilateral intranasal membranous septa with choanal atresia dividing the nasal cavity into two blind pouch: A case report

Congenital nasal anomalies are rare disorders. An 11-year-old girl presented to our clinic with a left sided nasal obstruction and chronic nasal discharge since birth. Clinical evaluation revealed membranous septa which divided the left nasal cavity into two blind pouch and left sided choanal atresia with alar cartilage asymmetry. This congenital anomaly was not defined in the English literature. The membranous septa in the left nasal cavity were excised, alar reconstruction were performed and the choanal atresia were repaired by a transnasal endoscopic approach. In this article we reported a case of membranous septa which divided the left nasal cavity into two blind pouch associated with unilateral choanal atresia and alar cartilage asymmetry. Also the nasal anomalies and associated disorders in the literature were reviewed.

Isolated congenital absence of the left lower lateral cartilage

Introduction: Congenital defects of the nasal cartilaginous skeleton are rare, yet clinically relevant, entities that are important to recognize prior to operative repair Methods: A 47 year old woman was referred to our institution for lifelong leftsided nasal airway obstruction. On physical examination, a complete absence of the left lower lateral cartilage was suspected. Hypothesis: Complete congenital absence of the lower lateral cartilage Results: External approach rhinoplasty confirmed the above hypothesis, and reconstruction was performed with autologous septal cartilage. Conclusions: Careful history and physical examination is important in preoperative planning of nasal surgery. External rhinoplasty approach Isolated complete absence of left lower lateral cartilage identified (Figure 2a) Septal cartilage harvested Septal extension graft replaced the left medial crura Lateral crural strut graft replaced the left lateral crura Shield graft to orient and help reconstitute the tip Left domal onlay graft to emphasize left tip highlight Patient pleased with functional and aesthetic outcome Surgical Approach and Results 1. Losee JE, Kirschner RE, Whitaker LA, et al. Congenital nasal anomalies: a classification scheme. Plast Reconstr Surg 2004;113:676-689. 2. Bilkay U, Tokat C, Ozek C. Reconstruction of congenital absent columella. J Craniofac Surg 2004;15(1): 60-63. 3. Mavili ME, Akyurek M. Congenital isolated absence of the nasal columella: reconstruction with an internal nasal vestibular skin flap and bilateral labial mucosa flaps. Plast Reconstr Surg 2000;106(2):393 -399. 4. Yilmaz MD, Altunas A. Congenital vomeral bone defect. Am J Otolaryngol 2005;26(1):64-66. 5. Klinger M. Caviggioli, Klinger F, et al. Isolated congenital absence of the nasal bones and aesthetic surgical correction: managing and case report. Aesth Plast Surg 2005;29(4):246-249. References 47 year old otherwise healthy Latin American female Lifelong left sided nasal airway obstruction No prior facial trauma or surgery Exam showed mild septal deviation, profound nostril asymmetry, and the absence of any palpable cartilage within left side of the nasal tip (Figure 1) Case Presentation Figure 2a. Complete absence of lower lateral cartilage on the left. Figure 2b. Surgical repair with septal extension, lateral crural strut, and domal onlay grafts. Isolated, non-syndromic cases of absent nasal structures is exceedingly rare. No previous reports exist of isolated absence of a lower lateral cartilage. May occur after fusion of mesenchymal components by 10th week of gestation from vascular accident or pressure phenomenon. Despite its rarity, this anomaly reinforces the importance of careful pre-rhinoplasty analysis and familiarity with principles of open structure rhinoplasty. Conclusions Introduction History and physical examination are crucial to appropriate pre-operative planning of functional and cosmetic rhinoplasty Externally, special attention is paid to the characteristics of the skin-soft tissue envelope, the nasal bones, middle nasal vault, and the lower lateral cartilages. Internally, examination of the septum, the internal and external nasal valves, nasal sidewalls, inferior turbinates and the nasal mucosa. Congenital anomalies of the nose can be responsible for nasal airway obstruction and are present in 1/20,000 to 1/40,000 births Figure 1. Asymmetry of external nose noted with basal and frontal views.

Congenital isolated absence of the nasal cartilaginous septum

Congenital anomalies of the nasal septum, except septal deviation, constitute a small portion of all congenital nasal anomalies. In this report, we present a patient with congenital isolated absence of the quadrilateral cartilage of the nasal septum. Congenital septal anomalies are extremely rare, and congenital isolated absence of the quadrilateral cartilage has not been reported in the literature before.