1,484 results match your criteria Choanal Atresia


A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.

Eur J Med Genet 2022 Aug 10:104591. Epub 2022 Aug 10.

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, 500039, India. Electronic address:

Bamforth-Lazarus syndrome is a rare autosomal recessive disease caused by biallelic loss-of-function variants in the FOXE1 gene. The condition is characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis. To date, seven pathogenic variants have been reported in the FOXE1 gene causing Bamforth-Lazarus syndrome. Read More

View Article and Full-Text PDF

[A rare cause of respiratory distress in the newborn].

Authors:
C Cheping J Khamis

Rev Med Liege 2022 Jul;77(7-8):440-442

Service d'Imagerie médicale, CHC MontLégia, Liège, Belgique.

Respiratory distress in the newborn represents a real medical challenge from both the etiological and therapeutic points of view. The causes of respiratory distress are usually divided into two categories: upper and lower airway impairments, with the glottis as the reference level. Concerning the upper airway impairment in the newborn, nasal malformations are one of the main causes, choanal atresia in particular and more rarely congenital nasal pyriform aperture stenosis. Read More

View Article and Full-Text PDF

Surgical treatment of bony nasal airway stenosis in a patient with adult Crouzon's syndrome.

J Surg Case Rep 2022 Jul 30;2022(7):rjac358. Epub 2022 Jul 30.

Department of Otolaryngology-Head and Neck Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.

Crouzon's syndrome is associated with the respiratory impairment of the upper airway due to mid-facial hypoplasia. We managed an adult Crouzon patient who wanted us to treat his choanal and nasopharyngeal stenosis for obstructive sleep apnea relief and tracheostomy tube extubation. We drilled out the abnormal maxillary bone and created a new nasal passage to the pharynx. Read More

View Article and Full-Text PDF

[Unilateral coana atresia. A pediatric case report].

Arch Argent Pediatr 2022 08 7;120(4):e171-e174. Epub 2022 Jun 7.

División de Otorrinolaringología del Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires, Argentina.

Choanal atresia is characterized by obliteration of the posterior nasal opening. It is the most common congenital anomaly of the nasal passages. It has an incidence of 1 in 5000 to 7000 newborns; predominantly female. Read More

View Article and Full-Text PDF

Endoscopic Endonasal Repair of Congenital Choanal Atresia: Predictive Factors of Surgical Stability and Healing Outcomes.

Int J Environ Res Public Health 2022 Jul 26;19(15). Epub 2022 Jul 26.

Department of Medical and Surgical Sciences and Advanced Technologies "GF Ingrassia", E.N.T. Section, University of Catania, 95124 Catania, Italy.

Background: To assess the long-term outcomes and independent predictors of surgical success of a one-stage minimally invasive surgical procedure for congenital choanal atresia (C.C.A. Read More

View Article and Full-Text PDF

Treatment of choanal atresia in a cohort of 29 patients: Determinants for success or failure.

Int J Pediatr Otorhinolaryngol 2022 Sep 14;160:111240. Epub 2022 Jul 14.

Department of Otorhinolaryngology, Head and Neck Surgery, Tübingen University Hospital, Germany.

Background: Choanal Atresia is a congenital condition that presents as a blockage from the nasal cavity to the nasopharynx. According to the German statistical Institute (Statistisches Bundesamt), the incidence in Germany in 2018 reached 2.74 in 10,000 live births. Read More

View Article and Full-Text PDF
September 2022

Clinical spectrum of orbital and ocular abnormalities on fetal MRI.

Pediatr Radiol 2022 Jul 22. Epub 2022 Jul 22.

The George Washington University School of Medicine and Health Sciences, 2300 I Street NW, Washington, DC, 20052, USA.

Background: Fetal magnetic resonance imaging (MRI) may reveal sonographically occult ocular abnormalities. When discovered, acquired causes and genetic associations must be sought.

Objective: We aim to evaluate a fetal cohort with orbit and/or globe malformations to determine whether there are imaging patterns that suggest the underlying cause. Read More

View Article and Full-Text PDF

[CHARGE syndrome in children with congenital choanal atresia].

Vestn Otorinolaringol 2022 ;87(3):7-12

Pirogov Russian National Research Medical University, Moscow, Russia.

One of the most commonly associated genetic syndromes with congenital choanal atresia is CHARGE syndrome, which includes multiple congenital anomalies with variable phenotypic manifestations. The article presents data on the history of the study, prevalence, etiology and clinical criteria of this pathology.

Objective: To determine the frequency of detection and features of clinical manifestations of CHARGE syndrome in children with congenital choanal atresia. Read More

View Article and Full-Text PDF

Off-Label Use of Ciprofloxacin/Dexamethasone Drops in the Pediatric Upper Airway: Case Presentation and Review of Adverse Effects.

Ann Otol Rhinol Laryngol 2022 Jun 15:34894221104461. Epub 2022 Jun 15.

Division of Pediatric Otolaryngology, Department of Otolaryngology Head and Neck Surgery, New York University School of Medicine, New York, NY, USA.

Objective: This report describes a new observation of hyperglycemia in a child with Type 1 diabetes after off-label use of otic ciprofloxacin/dexamethasone drops in the nasal passage and reviews previous reports of adverse endocrine effects from intranasal corticosteroids in pediatric patients.

Methods: We describe the clinical case and conducted a literature review of MEDLINE (PubMed) and EMBASE.

Results: A 9-month-old female with a history of Type 1 diabetes who underwent unilateral choanal atresia repair was started on 1 week of ciprofloxacin 0. Read More

View Article and Full-Text PDF

[Midnasal stenosis: A rare differential diagnosis to choanal atresia].

Laryngorhinootologie 2022 Jun 10. Epub 2022 Jun 10.

Klinik für Hals-, Nasen- und Ohrenheilkunde, Universitätsklinikum Marburg, Philipps-Universität Marburg, Marburg, Deutschland.

View Article and Full-Text PDF

Safety profile and efficacy of high-dose topical mitomycin-C for choanal atresia repair: A prospective cohort study.

Int J Pediatr Otorhinolaryngol 2022 Aug 25;159:111190. Epub 2022 May 25.

Department of Otolaryngology-Head & Neck Surgery, King Saud University Medical City, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Objectives: To study the effect of dose-adjusted mitomycin-c (MMC) on the recurrence rate of choanal atresia (CA), and the complication rate associated with this concentration.

Methods: This prospective cohort study was conducted between May 2012 and March 2020 at a tertiary referral center. It included patients of all ages who were diagnosed with CA and scheduled to undergo surgical repair. Read More

View Article and Full-Text PDF

Pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects.

Public Health Nutr 2022 May 27:1-13. Epub 2022 May 27.

Department of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Dr, S416 CPHB, Iowa City, IA52242, USA.

Objectives: To explore associations between maternal pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects.

Design: This is a population-based, case-control study using maternal responses to a dietary assessment and published arsenic concentration estimates in food items to calculate average daily total and inorganic arsenic exposure during the year before pregnancy. Assigning tertiles of total and inorganic arsenic exposure, logistic regression analysis was used to estimate OR for middle and high tertiles, compared to the low tertile. Read More

View Article and Full-Text PDF

Surgical Management of Choanal Atresia: Two Classic Cases and Review of the Literature.

Cureus 2022 Apr 18;14(4):e24259. Epub 2022 Apr 18.

Pediatric Otolaryngology, Children's Ear, Nose and Throat (ENT) of Houston, Webster, USA.

Choanal atresia is a rare congenital airway malformation that presents a unique surgical challenge for pediatric otolaryngologists. Here we report two classic cases of choanal atresia and examine the surgical approaches to this entity. The first case was a four-day-old female with a history of CHARGE syndrome and bilateral mixed membranous and bony choanal atresia confirmed by a CT scan. Read More

View Article and Full-Text PDF

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease.

Prenat Diagn 2022 05 14;42(5):589-600. Epub 2022 Apr 14.

Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.

Introduction: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22. Read More

View Article and Full-Text PDF

Nasal Obstruction in the Infant.

Pediatr Clin North Am 2022 04;69(2):287-300

Connecticut Children's, 282 Washington Street, Hartford, CT 06106, USA.

Neonatal nasal obstruction is common in both the hospital and clinic settings. Causes can range from rhinitis to congenital masses, with a wide variety of congenital nasal masses described. A complete history and physical examination are necessary for correct diagnosis and management. Read More

View Article and Full-Text PDF

Long Term Incidence and Outcomes of Sinonasal and Otologic Disease in Patients With Pyriform Aperture Stenosis and Choanal Atresia.

J Craniofac Surg 2022 Mar 11. Epub 2022 Mar 11.

Department of Otolaryngology, University of Pittsburgh Medical Center Division of Pediatric Otolaryngology, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA.

Abstract: Pyriform aperture stenosis (PAS) and choanal atresia (CA) are 2 anatomic causes of newborn nasal obstruction. The goal of management of PAS and CA is to establish a patent nasal airway, often requiring surgery. No previous study has sought to assess the long term sinonasal and otologic disease incidence and outcomes in the PAS and CA population after surgical intervention. Read More

View Article and Full-Text PDF

[Perioperative management of cochlear implantation for CHARGE syndrome].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2022 Mar;36(3):198-204

Department of Otolaryngology Head and Neck Surgery,First Affiliated Hospital of Military Medical University of Air Force,Xi'an,710032,China.

To explore the perioperative period characteristics of paediatric cochlear implant recipients of CHARGE syndrome with complex deformities. Retrospective case series of CHARGE syndrome were included. Radiological results, intraoperative findings, surgical planning and post-operative complications were analyzed. Read More

View Article and Full-Text PDF

A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.

BMC Pediatr 2022 02 21;22(1):102. Epub 2022 Feb 21.

Department of Pediatric Cardiology, Ondokuz Mayıs University Faculty of Medicine, Samsun, Turkey.

Background: Oculo-auriculo-vertebral spectrum is a heterogeneous group of genetic disorder, also known as Goldenhar Syndrome, which has several phenotypic features including craniofacial anomalies, cardiac, vertebral and central nervous system defects. Cardiovascular anomalies include ventricular septal defects, atrial septal defects, patent ductus arteriosus, Tetralogy of Fallot, double outlet right ventricle, aberrant right subclavian artery, coarctation of aorta, transposition of the great arteries, double inlet left ventricle, cor triatriatum, pulmonary artery stenosis, aortic stenosis, persistent left superior vena cava, partially or totally abnormal pulmonary venous return and bicuspid aortic valve. Persistent fifth aortic arch, also named as double lumen aortic arch, is a very rare cardivascular anomaly and usually associate other cardiac defects. Read More

View Article and Full-Text PDF
February 2022

Management of recurrent acquired choanal atresia with radial forearm free flap transfer.

Ear Nose Throat J 2022 Feb 17:1455613211070894. Epub 2022 Feb 17.

Department of Plastic and Reconstructive Surgery, RinggoldID:242612The Jikei University School of Medicine, Tokyo, Japan.

Acquired choanal atresia is a rare complication of pharyngeal surgical interventions. Here, we report the case of a 72-year-old woman who was treated in our institution for acquired choanal atresia after failed previous treatments. We have excised the obstructing fibrotic scar tissue and then reconstructed the area using a mucosal local flap and free radial forearm flap transfer. Read More

View Article and Full-Text PDF
February 2022

Choanal Atresia Repair With Stents and Flaps: A Systematic Review Article.

Allergy Rhinol (Providence) 2021 Jan-Dec;12:21526567211058052. Epub 2021 Dec 17.

Department of Otorhinolaryngology, Head and Neck Surgery, College of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.

Background: Choanal Atresia is an obliteration by an atretic plate of the posterior choanae due to a failure of the bucconasal membrane to rupture. The insertion of stents post choanal atresia repair is familiar. Still, there are limited studies in the literature that specify the time to remove it, the best materials, and the effectiveness of each kind. Read More

View Article and Full-Text PDF
December 2021

[Clinical characteristics and outcomes of 111 neonates with upper airway obstruction admitted via transportation].

Zhonghua Er Ke Za Zhi 2022 Feb;60(2):88-93

Department of Neonatology, Neonatal Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

To analyze the clinical characteristics and outcomes of neonates with upper airway obstruction (UAO) who were admitted via transportation, hence to provide more evidence-based information for the clinical management of UAO. This was a single center retrospective study. Patients were hospitalized in Beijing Children's Hospital from January 1, 2016 to May 31, 2021 with age <28 days or postmenstrual age (PMA) ≤44 weeks, and UAO as the first diagnosis. Read More

View Article and Full-Text PDF
February 2022

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

Am J Med Genet A 2022 05 21;188(5):1600-1606. Epub 2022 Jan 21.

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon, France.

Loss-of-function variants in KMT2D are responsible for Kabuki syndrome type 1 (KS1). In the last 5 years, missense variants in exon 38 or 39 in KMT2D have been found in patients exhibiting a new phenotype with multiple malformations and absence of intellectual disability, distinct from KS1. To date, only 16 cases have been reported with classic features of hearing loss, abnormality of the ear, lacrimal duct defects, branchial sinus/neck pits, choanal atresia (CA), athelia, hypo(para)thyroidism, growth delay, and dental anomalies. Read More

View Article and Full-Text PDF

Surgical repair of choanal atresia: Retropalatal endoscopic versus endonasal endoscopic technique.

Am J Otolaryngol 2022 May-Jun;43(3):103339. Epub 2021 Dec 29.

Department of Pediatric Otorhinolaryngology, Athens Children's Hospital "P. & A. Kyriakou", Athens, Greece.

View Article and Full-Text PDF

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

Am J Med Genet A 2022 04 7;188(4):1307-1310. Epub 2022 Jan 7.

Division of Clinical and Translational Genetics, Dr John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

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. Read More

View Article and Full-Text PDF

Dandy-Walker syndrome with bilateral choanal atresia: A case report.

Int J Surg Case Rep 2022 Jan 20;90:106702. Epub 2021 Dec 20.

Department of Pediatric Surgery, Department of Otolaryngology Head and Neck Surgery, Ministry of the National Guard - Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Introduction: Dandy-Walker syndrome is a rare congenital brain malformation characterized by cerebellar vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa causing upward displacement of tentorium and torcula. In this paper, we present a case of bilateral choanal atresia with Dandy-Walker Syndrome in a female newborn.

Case Presentation: We present a case of a female patient who was born at 38th weeks of gestation via emergency cesarean section due to non-reassuring cardiotocography and abnormal antenatal ultrasounds findings. Read More

View Article and Full-Text PDF
January 2022

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

ORL J Otorhinolaryngol Relat Spec 2022 26;84(2):89-92. Epub 2021 Nov 26.

Smell and Taste Clinic, Department of Otorhinolaryngology, TU Dresden, Dresden, Germany.

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. Read More

View Article and Full-Text PDF

[Treatment of unilateral choanal atresia in an adult woman].

Laryngorhinootologie 2021 12 26;100(12):964-965. Epub 2021 Nov 26.

Klinik für Hals-Nasen-Ohrenheilkunde, Kopf- und Halschirurgie der Ruhr-Universität Bochum.

View Article and Full-Text PDF
December 2021

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

BMJ Case Rep 2021 Nov 2;14(11). Epub 2021 Nov 2.

Department of Adult and Development Age Human Pathology "Gaetano Barresi", Unit of Otorhinolaryngology, Universita degli Studi di Messina, Messina, Italy.

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. Read More

View Article and Full-Text PDF
November 2021

Correction to: Combination of the endoscopic septonasal flap technique and bioabsorbable steroid-eluting stents for repair of congenital choanal atresia in neonates and infants: a retrospective study.

J Otolaryngol Head Neck Surg 2021 Nov 2;50(1):62. Epub 2021 Nov 2.

Department of Otorhinolaryngology Head and Neck Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, 56 Nan Li Shi Road Xi Cheng District, Beijing, 100045, People's Republic of China.

View Article and Full-Text PDF
November 2021