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Choanal atresia

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https://www.readbyqxmd.com/read/28905882/identification-of-causative-variants-in-txnl4a-in-burn-mckeown-syndrome-and-isolated-choanal-atresia
#1
Jacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, Marieke F van Dooren, A Jeannette M Hoogeboom, Christian Beetz, Sven Günther, Frank J Magielsen, Charlotte W Ockeloen, Maria A Ramos-Arroyo, Rolph Pfundt, Helger G Yntema, Peter J van der Spek, Philip Stanier, Dagmar Wieczorek, Andrew O M Wilkie, Ans M W van den Ouweland, Irene M J Mathijssen, Jane A Hurst
Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of BMKS and her parents by whole-genome sequencing and identified compound heterozygous variants in TXNL4A (a novel splice site variant (c.258-2A>G, (p...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28801718/stentless-endoscopic-repair-of-congenital-choanal-atresia-is-it-enough-for-maintaining-choanal-patency
#2
Emel Çadallı Tatar, Bülent Öcal, Esra Doğan, Ömer Bayır, Cem Saka, Ali Özdek, Mehmet Hakan Korkmaz
The aim of choanal atresia (CA) surgery is to achieve bilateral nasal patency. Among the different methods of CA repair, the endoscopic transnasal approach has gained recent popularity with the advent of endoscopic instruments and techniques. This article describes our experience regarding CA repair that was done either using or not using a stent in different periods of time in our department. Between February 2006 and February 2016, a total of 29 patients aged 2 days-53 years underwent endoscopic transnasal CA repair...
August 11, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28780518/birth-defects-after-use-of-antithyroid-drugs-in-early-pregnancy-a-swedish-nationwide-study
#3
Stine Linding Andersen, Stefan Lönn, Peter Vestergaard, Ove Törring
OBJECTIVE: Antithyroid drugs (ATDs) may have teratogenic effects, but more evidence is needed on the risk and types of birth defects after the use of Methimazole (MMI) and Propylthiouracil (PTU). This study aimed to evaluate the association between the use of ATDs in early pregnancy and birth defects. DESIGN: Swedish nationwide register-based cohort study. METHODS: The study included 684,340 children live-born in Sweden from 2006-2012. Exposure groups defined by maternal ATD use in early pregnancy were: MMI (n=162); PTU (n=218); MMI and PTU (n=66); ATD before or after, but not in pregnancy (n=1,551); and non-exposed (never ATD (n=682,343))...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28716867/syndromic-congenital-diarrhoea-new-spint2-mutation-identified-in-the-uae
#4
Solange Bou Chaaya, Julian D Eason, Bibian N Ofoegbu
We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The determination of the molecular basis of syndromic CSD will facilitate prenatal and postnatal diagnosis of patients and will contribute to counselling of affected families, especially in areas like the UAE where consanguineous marriages are not uncommon...
July 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28714498/chondrodysplasia-punctata-a-case-report-of-fetal-warfarin-syndrome
#5
S Songmen, O B Panta, S S Paudel, R K Ghimire
Chondrodysplasia punctata is abnormal calcification in the cartilage of developing bones and has been seen in association with deranged vitamin K metabolism. Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata. Despite the knowledge of the condition the management of patients with prosthetic heart valves might require use of the drug for anticoagulation. Here, we present a case of a fetal warfarin syndrome in a second born child of a 27 year lady under warfarin for prosthetic heart valve...
January 2017: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28680498/impact-of-successful-choanal-atresia-repair-on-the-nasal-mucosa-a-preliminary-study
#6
Ezzeddin Elsheikh, Mohammad Waheed El-Anwar, Hesham Radwan Abdel-Aziz
Introduction  The main histological features of the nasal mucosa in choanal atresia are distorted cilia, marked increase of mucous submucosal glands associated with marked reduction of goblet cell density, and lymphocytic cellular infiltration. Objective  To study the nasal mucosal changes in cases of choanal atresia after successful repair compared with pre-repair mucosal histological features. Methods  Tissue samples were taken from the inferior turbinate of 3 patients (1 bilateral and 2 unilateral) who were successfully operated...
July 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28667919/a-rare-case-report-of-bilateral-choanal-atresia-in-an-adult
#7
Said Anajar, Jawad Hassnaoui, Sami Rouadi, Reda Abada, Mohammed Roubal, Mohammed Mahtar
INTRODUCTION: Adult choanal atresia is a rare congenital malformation of the nasal cavity characterized by the complete obliteration of the posterior choanae, only ninth cases are reported in the literature, we present in our observation the tenth case of adult bilateral choanal atresia. PRESENTATION OF CASE: A 18-year-old man presented at our department with complaints of nasal obstruction, nasal discharge, snoring, anosmia, and mouth breathing since childhood...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#8
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28609304/suprameatal-cochlear-implantation-in-a-charge-patient-with-a-novel-chd7-variant-and-kallmann-syndrome-phenotype-a-case-report
#9
Akira Ganaha, Tetsuya Tono, Tadashi Kaname, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Hiroyuki Maeda, Mikio Suzuki
OBJECTIVE: We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene. PATIENT: A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, choanal atresia, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome...
August 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28583512/comprehensive-management-of-congenital-choanal-atresia
#10
Pierre Brihaye, Isabelle Delpierre, Andrée De Villé, Anne-Britt Johansson, Dominique Biarent, Anne-Laure Mansbach
OBJECTIVES: To present results of a one-stage minimally invasive surgical procedure for congenital choanal atresia (CCA). Seven outcome measures were applied. MATERIALS AND METHODS: Retrospective study conducted between 1999 and 2015. The same endonasal endoscopic approach with multiflaps and no stenting was used on 36 children. The flaps were attached with fibrine glue. There were 50% unilateral and 50% bilateral cases, 70% primary and 30% secondary surgery. The mean age at primary surgery for bilateral atresia was 10 days and for unilateral atresia 4 years...
July 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28476356/an-italian-multicentre-experience-in-endoscopic-endonasal-treatment-of-congenital-choanal-atresia-proposal-for-a-novel-classification-system-of-surgical-outcomes
#11
Apostolos Karligkiotis, Paolo Farneti, Stefania Gallo, Alessandro Pusateri, Francesco Zappoli-Thyrion, Vittorio Sciarretta, Fabio Pagella, Paolo Castelnuovo, Ernesto Pasquini
OBJECTIVE: The purposes of this study were to report our experience with endoscopic treatment of choanal atresia (CA), to illustrate our surgical technique and analyse the different factors that may affect outcomes. MATERIAL AND METHODS: A retrospective review was performed of patients affected by congenital CA and treated between June 1996 and November 2013 at three referral centres which follow a uniform policy. RESULTS: Eighty-four patients with CA (55 unilateral and 29 bilateral), aged between one day and 76 years (mean, 13 years) were included...
March 28, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28461801/a-rare-case-of-vascular-ring-and-coarctation-of-the-aorta-in-association-with-charge-syndrome
#12
Jonathan B Wagner, Joshua Q Knowlton, Peter Pastuszko, Sanket S Shah
A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring-consisting of a right aortic arch with retroesophageal brachiocephalic artery-combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction...
April 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28414605/use-of-a-novel-surgical-approach-for-treatment-of-complete-bilateral-membranous-choanal-atresia-in-an-alpaca-cria
#13
Karine Pader, Patrick M Burns, Anne-Claire Brisville, Marjolaine Rousseau, Laurent Blond, Geoffrey Truchetti, Hélène Lardé, Catherine Lapointe, David Francoz
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...
May 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28289870/the-effects-of-choanal-atresia-on-development-of-the-paranasal-sinuses-and-turbinates
#14
Suat Terzi, Engin Dursun, Fatma Beyazal Çeliker, Metin Çeliker, Mehmet Beyazal, Abdulkadir Özgür, Emel Çadallı Tatar, Mehmet Hakan Korkmaz
PURPOSE: The objective of this study was to evaluate the volume of paranasal sinuses (PNS) and turbinate in patients with unilateral choanal atresia (CA). MATERIALS AND METHOD: Computed tomography images of PNS in 11 individuals with unilateral CA were evaluated retrospectively. Mucosal thickness and volume of the maxillary, frontal and sphenoidal sinuses were determined, in addition to the volume of the middle and inferior turbinate. The unaffected nasal side of patients was used as a control group for the measurements...
March 13, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28253873/extended-clinical-features-associated-with-novel-glis3-mutation-a-case-report
#15
K A Alghamdi, A B Alsaedi, A Aljasser, A Altawil, Naglaa M Kamal
BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency. CASE PRESENTATION: We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism...
March 2, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28169399/rdh10-loss-of-function-and-perturbed-retinoid-signaling-underlies-the-etiology-of-choanal-atresia
#16
Hiroshi Kurosaka, Qi Wang, Lisa Sandell, Takashi Yamashiro, Paul A Trainor
Craniofacial development is a complex process that involves sequential growth and fusion of the facial prominences. When these processes fail, congenital craniofacial anomalies can occur. For example, choanal atresia (CA) is a congenital craniofacial anomaly in which the connection between the nasal airway and nasopharynx is completely blocked. CA occurs in approximately 1/5000 live births and is a frequent component of congenital disorders such as CHARGE, Treacher Collins, Crouzon and Pfeiffer syndromes. However, the detailed cellular and molecular mechanisms underpinning the etiology and pathogenesis of CA remain elusive...
April 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#17
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28045821/treatment-of-congenital-choanal-atresia-via-transnasal-endoscopic-method
#18
Secaattin Gulşen, Elif Baysal, Fatih Celenk, Ismail Aytaç, Cengiz Durucu, Muzaffer Kanlikama, Semih Mumbuç
OBJECTIVES: Congenital choanal atresia (CCA) is a very rare abnormality of the nose, but in the case of bilateral presence, it becomes a life-threatening malformation. Various surgical treatment options, such as transpalatal, transseptal, and open rhinoplasty techniques, as well as the transnasal approach, have been defined for the repair of CCA. In this study, the authors intended to evaluate the outcomes of transnasal endoscopic surgery for CCA, and stent implementation's impact on surgical success...
March 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28032936/role-of-jnk-during-buccopharyngeal-membrane-perforation-the-last-step-of-embryonic-mouth-formation
#19
Nathalie S Houssin, Navaneetha Krishnan Bharathan, Stephen D Turner, Amanda J G Dickinson
BACKGROUND: The buccopharyngeal membrane is a thin layer of cells covering the embryonic mouth. The perforation of this structure creates an opening connecting the external and the digestive tube which is essential for oral cavity formation. In humans, persistence of the buccopharyngeal membrane can lead to orofacial defects such as choanal atresia, oral synechiaes, and cleft palate. Little is known about the causes of a persistent buccopharyngeal membrane and, importantly, how this structure ruptures...
February 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28005740/anesthesia-management-in-patients-with-choanal-atresia
#20
Zeynep Baysal Yildirim, Mehmet Akdağ, Feyzi Çelik, Elif Baysal
BACKGROUND: In this study, the anaesthetic management of newborn and infant patients who underwent surgery for choanal atresia between 2009 and 2016 is discussed in the light of recently published literature. METHODS: The diagnoses, demographic data, anaesthetic risk and duration, additional anomalies, airway management, and complications that arose in 41 patients with choanal atresia who were operated on between 2009 and 2016 were evaluated retrospectively by examining their medical and anaesthesia records...
November 2016: Journal of Craniofacial Surgery
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