1,386 results match your criteria Choanal Atresia


Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Front Genet 2020 18;11:592. Epub 2020 Jun 18.

Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The disease is characterized by a pattern of congenital anomalies that involve multiple organs. In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutations by whole exome sequencing. Read More

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http://dx.doi.org/10.3389/fgene.2020.00592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314916PMC

McGovern nipple: An alternative for nose breathing in newborn with CHARGE syndrome, having bilateral choanal atresia.

J Indian Soc Pedod Prev Dent 2020 Apr-Jun;38(2):204-207

Department of Oral and Maxillofacial Surgery, Sri Guru Ram Das Institute of Dental Sciences and Research , Amritsar, Punjab, India.

CHARGE syndrome caused by the mutation of CHD7 genes is associated with many congenital anomalies. Individuals are diagnosed based on major and minor characteristic features and confirmed by genetic testing. Major criteria characterized by 4C's: Coloboma, Cranial nerve abnormalities, Choanal atresia, and typical CHARGE ear are seen. Read More

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http://dx.doi.org/10.4103/JISPPD.JISPPD_320_19DOI Listing

[Transnasal endoscopic surgery of choanal atresia after radiotherapy for nasopharyngeal carcinoma].

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2020 Jun;55(6):599-603

Department of Otorhinolaryngology Head and Neck Surgery, the First Affiliated Hospital of Nanchang Universty, Nanchang 330006, China.

To discuss the effect of endoscopic dilatation and plasty for choanal atresia after radiotherapy for nasopharyngeal carcinoma. Nineteen patients with choanal atresia who were admitted to the Department of Otorhinolaryngology Head and Neck Surgery of the First Affiliated Hospital of Nanchang University from Jan. 2011 to Dec. Read More

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http://dx.doi.org/10.3760/cma.j.cn115330-20190707-00429DOI Listing

Transfer of patients from a regional centre to a tertiary paediatric hospital for acute otolaryngology management: When is it necessary?

J Paediatr Child Health 2020 Jun 25. Epub 2020 Jun 25.

Department of Otolaryngology, The Royal Children's Hospital, Melbourne, Victoria, Australia.

Aim: Transfer of patients from a regional to a tertiary paediatric facility is sometimes required for management of otolaryngological conditions when the expertise available locally is insufficient to deal with the complexity of the case.

Methods: A retrospective analysis was carried out over a 3-year period of all patients under 18 years of age who were transferred to the Royal Children's Hospital Melbourne, primarily for otolaryngology management, from a regional hospital with an inpatient paediatric service and located 100 km or far from the Royal Children's Hospital.

Results: Thirty-nine patients (30 male, 9 female) were identified. Read More

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http://dx.doi.org/10.1111/jpc.14995DOI Listing

Surgical Management of Choanal Atresia With Intranasal Hegar's Dilator and Transnasal Endoscopic Excision: A 20-year Retrospective Comparative Study.

Cureus 2020 May 11;12(5):e8060. Epub 2020 May 11.

Otolaryngology - Head and Neck Surgery, Al-Noor Specialist Hospital, Makkah, SAU.

Background Although choanal atresia (CA) was first described 250 years ago, its description and understanding remain incomplete, as is the distinction between unilateral and bilateral CA. Among the surgical techniques introduced to manage this condition are intranasal Hegar's dilator (IHD) and transnasal endoscopic excision (TNEE). Objectives This study retrospectively evaluated the outcomes and effectiveness of IHD and TNEE in the treatment of patients with CA, including differences in the incidence of re-stenosis with these techniques. Read More

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http://dx.doi.org/10.7759/cureus.8060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286581PMC

Congenital nasal piriform aperture atresia: A case report and novel finding.

Int J Pediatr Otorhinolaryngol 2020 Aug 19;135:110124. Epub 2020 May 19.

Massachusetts Eye and Ear Infirmary, Department of Otolaryngology Head and Neck Surgery, Boston, MA, USA. Electronic address:

Congenital nasal piriform aperture stenosis and choanal atresia are types of nasal obstructions that can be life threatening to infants if left untreated. While there has been numerous reports on both of them there has not been a single reported case of congenital nasal piriform aperture atresia. Here, we present the first case of piriform aperture atresia that includes the diagnostic and clinical approach. Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.110124DOI Listing

The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016.

Cureus 2020 Apr 29;12(4):e7891. Epub 2020 Apr 29.

Pediatric Cardiology, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.

Background Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes. Read More

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http://dx.doi.org/10.7759/cureus.7891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255536PMC

Nasal cavity shape in unilateral choanal atresia and the role of fetal ventilation in facial growth.

J Stomatol Oral Maxillofac Surg 2020 May 29. Epub 2020 May 29.

Service de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Centre de Référence des Fentes et malformations faciales MAFACE, Filière Maladies Rares TeteCou, Université de Paris, Paris, France.

Objective: The respiratory movements of fetal amniotic fluid areconsidered by certains cleft surgery teams to contribute to the growth of the nasal cavities (NC). To assess this functional hypothesis, we considered a group of patients with unilateral choanal atresia (CA) as a model of unilateral absence of amniotic fluid flux in the NC, and compared their NCs shape to age-matched controls.

Material And Methods: Three-dimensional reconstructions of NC were performed using Avizo 9. Read More

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http://dx.doi.org/10.1016/j.jormas.2020.05.021DOI Listing

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

Am J Med Genet A 2020 May 31. Epub 2020 May 31.

Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.

We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p. Read More

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http://dx.doi.org/10.1002/ajmg.a.61628DOI Listing

Use of Steroid-Eluting Stents after Endoscopic Repair of Choanal Atresia: A Case Series with Review.

Ann Otol Rhinol Laryngol 2020 May 29:3489420928374. Epub 2020 May 29.

Division of Pediatric Otolaryngology - Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Objective(s): To describe a single institution's experience with the use of steroid-eluting stents after endoscopic transnasal repair of choanal atresia.

Methods: A case series with review of children who underwent choanal atresia repair at a tertiary children's hospital from June 2017 to January 2018 was performed. Those who had a mometasone drug-eluting stent (Propel Mini, Intersect ENT Inc. Read More

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http://dx.doi.org/10.1177/0003489420928374DOI Listing
May 2020
1.054 Impact Factor

Performance of endoscopic repair with endonasal flaps for congenital choanal atresia. A systematic review.

Acta Otorrinolaringol Esp 2020 May 18. Epub 2020 May 18.

Otolaryngology Department, Barcelona Children's Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Catalonia, Spain.

Endoscopic repair of congenital choanal atresia is the gold standard surgical treatment today. Though several controversies on treatment have been reported, surgical techniques for better outcomes are still in discussion. The objective of this study is to evaluate the performance of endoscopic choanal atresia repair with endonasal flaps and no stents. Read More

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http://dx.doi.org/10.1016/j.otorri.2020.01.002DOI Listing

Endoscopic Repair of Choanal Atresia: 33 Years Later.

Ear Nose Throat J 2020 May 13:145561320925194. Epub 2020 May 13.

Department of Otolaryngology-Head and Neck Surgery, Loyola University Medical Center, Maywood, IL, USA.

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http://dx.doi.org/10.1177/0145561320925194DOI Listing

Rare manifestations of Potter Sequence: A Case Report.

JNMA J Nepal Med Assoc 2020 Mar;58(223):178-180

Neonatal Unit, Department of Pediatrics, Kathmandu Medical College Teaching Hospital, Sinamangal, Kathmandu, Nepal.

Potter sequence is a rare congenital malformation that primarily affects male fetuses and is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbsor limbs in abnormal positions or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. Read More

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Natural history of non-lethal Raine syndrome during childhood.

Orphanet J Rare Dis 2020 Apr 16;15(1):93. Epub 2020 Apr 16.

Department of Pediatrics, Vittore Buzzi Children's Hospital, Department of Biomedical and Clinical Science L. Sacco, Università degli Studi di Milano, Milan, Italy.

Background: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. Read More

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http://dx.doi.org/10.1186/s13023-020-01373-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164176PMC

Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation.

Stem Cell Res 2020 05 20;45:101774. Epub 2020 Mar 20.

Laboratory of Stem Cells, Institute of Cell Biology, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, China.

CHARGE syndrome is a rare disease caused by a genetic disorder. The clinical features of this syndrome include coloboma of the eye, heart anomaly, choanal atresia, retardation of mental and somatic development, microphallus, ear abnormalities and/or deafness. CHD7 is the main causative gene for CHARGE syndrome. Read More

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http://dx.doi.org/10.1016/j.scr.2020.101774DOI Listing

Use of a modified stethoscope to assess paediatric nasal airflow in suspected choanal atresia, nasal stents or nasopharyngeal airways.

Clin Otolaryngol 2020 Jul 20;45(4):654-655. Epub 2020 Apr 20.

Evelina London Children's Hospital, London, UK.

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http://dx.doi.org/10.1111/coa.13534DOI Listing

[A new approach to bilateral atresia joan newborns].

Vestn Otorinolaringol 2020 ;85(1):94-96

Vladimirsky Moscow Regional Research Clinical Institute, Moscow, Russia, 129110.

This article presents a new method which allows to prevent cicatricial atresia of the lumen of joan in the late postoperative period during their formation. By this method there is a patent No. 2614936 from 30. Read More

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http://dx.doi.org/10.17116/otorino20208501194DOI Listing
January 2020

[New ways of solving the problem of restenosis in the surgical treatment of congenital choanal atresia in children].

Vestn Otorinolaringol 2020 ;85(1):45-47

Pirogov Russian National Research Medical University of the Ministry of Health of Russia, Department of Otolaryngology of Pediatric Faculty, Moscow, Russia, 117997.

This article presents the literature data and our own findings on the surgical treatment and options for solving the problem of restenosis in congenital atresia of the choanae (CAC) in children.

Purpose: In order to solve the issues of prevention of the fibrosis in the postoperative period in patients with CAC, the prospects of using the carboxymethyl cellulose gel-sodium salt (CGSS) were assessed.

Patients And Methods: This medicine was used in patients, who were: primarily operated, after a period of wearing a protector (n=17); primarily operated without using a protector, at the final stage of the operation and in the early postoperative period (n=15); reoperated because of the restenosis, also at the final stage of the operation and in the early postoperative period (n=12). Read More

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http://dx.doi.org/10.17116/otorino20208501145DOI Listing
January 2020

Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.

Am J Med Genet A 2020 06 18;182(6):1313-1315. Epub 2020 Mar 18.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

Burn-McKeown syndrome (BMKS) (MIM# 608572) is a rare condition caused by biallelic variants in TXNL4A. BMKS is characterized by craniofacial dysmorphism, choanal atresia, and normal intellect in affected individuals. BMKS has overlapping clinical features with Treacher Collins syndrome. Read More

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http://dx.doi.org/10.1002/ajmg.a.61554DOI Listing
June 2020
2.159 Impact Factor

Image-guided navigation surgery for bilateral choanal atresia with a Tessier number 3 facial cleft in an adult.

Arch Craniofac Surg 2020 Feb 20;21(1):64-68. Epub 2020 Feb 20.

Department of Plastic and Reconstructive Surgery, Pusan National University School of Medicine, Busan, Korea.

The coexistence of craniofacial cleft and bilateral choanal atresia has only been reported in three cases in the literature, and only one of those cases involved a Tessier number 3 facial cleft. It is also rare for bilateral choanal atresia to be found in adulthood, with 10 previous cases reported in the literature. This report presents the case of a 19-year-old woman with a Tessier number 3 facial cleft who was diagnosed with bilateral choanal atresia in adulthood. Read More

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http://dx.doi.org/10.7181/acfs.2019.00661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054193PMC
February 2020

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

Am J Med Genet A 2020 05 21;182(5):1053-1065. Epub 2020 Feb 21.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

Pathogenic variants in KMT2D, which encodes lysine specific methyltransferase 2D, cause autosomal dominant Kabuki syndrome, associated with distinctive dysmorphic features including arched eyebrows, long palpebral fissures with eversion of the lower lid, large protuberant ears, and fetal finger pads. Most disease-causing variants identified to date are putative loss-of-function alleles, although 15-20% of cases are attributed to missense variants. We describe here four patients (including one previously published patient) with de novo KMT2D missense variants and with shared but unusual clinical findings not typically seen in Kabuki syndrome, including athelia (absent nipples), choanal atresia, hypoparathyroidism, delayed or absent pubertal development, and extreme short stature. Read More

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http://dx.doi.org/10.1002/ajmg.a.61518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295006PMC

Clinical retrospective analysis of 15 cases of choanal atresia - Our experience.

World J Otorhinolaryngol Head Neck Surg 2019 Dec 13;5(4):188-192. Epub 2019 Jun 13.

Department of ENT, Sur Hospital, South Sharqiya Region, Sur, Sultanate of Oman.

Objective: Choanal atresia is a rare congenital disorder due to failed recanalization of the nasal fossae during fetal development. This article focuses on our experience in dealing with choanal atresia and its management. Here we discuss the varied clinical symptoms that the patients presented with, the clinical tests and investigations that were specific in diagnosing this condition and surgical management of these cases with endoscopic transnasal choanaplasty with stenting and follow up topical Mitomycin C application. Read More

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http://dx.doi.org/10.1016/j.wjorl.2019.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015823PMC
December 2019

Clinical and imaging evaluation of Congenital Midnasal Stenosis.

Int J Pediatr Otorhinolaryngol 2020 Feb 1;132:109918. Epub 2020 Feb 1.

Pediatric Otolaryngology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Objectives: To illustrate the clinical and radiological presentation of a rare etiology of nasal obstruction in neonates, midnasal stenosis (MNS), including a comparison of nasal dimensions with those of normal infants.

Methods: We retrospectively reviewed medical charts and computerized tomography (CT) imaging of neonates with nasal obstruction diagnosed as stenosis in the midnasal area in a tertiary pediatric medical center. MNS was defined clinically by inability to visualize the middle turbinate with an endoscope despite the absence of stenosis of the anterior aperture or any gross septal deviation. Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.109918DOI Listing
February 2020

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Genet Med 2020 May 17;22(5):867-877. Epub 2020 Jan 17.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.

Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1).

Methods: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of 54 amino acids flanked by Val3527 and Lys3583, were identified and phenotyped. Functional tests were performed to study their pathogenicity and understand the disease mechanism. Read More

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http://dx.doi.org/10.1038/s41436-019-0743-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200597PMC

Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system.

Birth Defects Res 2020 Mar 14;112(5):404-417. Epub 2020 Jan 14.

Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Atlanta, Georgia.

Background: Previous studies suggested associations between maternal smoking, a source of exposure to polycyclic aromatic hydrocarbons (PAHs) and other chemicals, and central nervous system and face birth defects; however, no previous studies have evaluated maternal occupational PAH exposure itself.

Methods: Jobs held in the periconceptional period were retrospectively assigned for occupational PAH exposures. Associations between maternal occupational PAH exposure and selected rare defects of the face (cataracts, microphthalmia, glaucoma, microtia, and choanal atresia) and central nervous system (holoprosencephaly, hydrocephaly, cerebellar hypoplasia, and Dandy-Walker malformation) were evaluated using data from the National Birth Defects Prevention Study, a population-based case-control study in the United States. Read More

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http://dx.doi.org/10.1002/bdr2.1643DOI Listing

Choanal stenosis post radiotherapy for nasopharyngeal carcinoma: about an endoscopic management.

Pan Afr Med J 2019 25;34:111. Epub 2019 Oct 25.

ENT-HNS Department, Mohammed VI University Hospital Center, Marrakech, Morocco.

Choanal atresia is a rare complication of radiation for nasopharyngeal carcinoma, which has to be early detected. Its treatment is based on endoscopic endonasale surgery. We report a rare case of choanal stenosis observed in a 54-year-old patient, Ho presented 4 years after the end of radiotherapy for nasopharyngeal carcinoma, a progressive bilateral nasal obstruction, anosmia, and rhinorrhea without bleeding. Read More

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http://dx.doi.org/10.11604/pamj.2019.34.111.18968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945375PMC
January 2020

Apert syndrome: Diagnostic and management problems in a resource-limited country.

Pediatr Rep 2019 Dec 2;11(4):8224. Epub 2019 Dec 2.

Department of Pediatrics, Sourô Sanou University Hospital, Bobo-Dioulasso.

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sourô Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Read More

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http://dx.doi.org/10.4081/pr.2019.8224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908957PMC
December 2019

Phenotypic spectrum of neonatal CHARGE syndrome.

Rev Chil Pediatr 2019 Oct;90(5):533-538

División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Chile.

Introduction: CHARGE syndrome is a genetic disorder of wide phenotypic variability, of autosomal dominant in heritance, caused by pathogenic variants in the CHD7 gene.

Objective: To describe the broad pheno typic spectrum of neonatal CHARGE syndrome, heterozygous for the CHD7 gene, and the usefulness of genome sequencing in diagnostic confirmation, considering differential diagnoses.

Clinical Case: 34-week preterm newborn, with severe prenatal history of polyhydramnios, increased nuchal trans- lucency, and hyperechogenic cardiac focus, with a TORCH study that ruled out congenital infection. Read More

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http://dx.doi.org/10.32641/rchped.v90i5.1080DOI Listing
October 2019

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.

Hum Genomics 2019 12 5;13(1):63. Epub 2019 Dec 5.

Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, 201102, China.

Background: Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature. Heterozygous loss of function variants of EFTUD2 was previously reported in MFDM; however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear.

Results: We identified a novel frameshift variant of EFTUD2 (c. Read More

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http://dx.doi.org/10.1186/s40246-019-0238-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894506PMC
December 2019

CNPAS: A Differential to Choanal Atresia.

Indian J Otolaryngol Head Neck Surg 2019 Nov 19;71(Suppl 3):2133-2135. Epub 2019 Jan 19.

Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai, 400022 India.

A case of 7 day old male child, born at 36 weeks, presented with feeding difficulties, hypothermia and failure to thrive. After clinical examination to rule out any gross congenital anomalies, CT scan was done which was suggestive of pyriform aperture stenosis. It was surgically dilated and stented successfully. Read More

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http://dx.doi.org/10.1007/s12070-019-01590-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848730PMC
November 2019

CHARGE syndrome in nine patients from China.

Am J Med Genet A 2020 01 15;182(1):15-19. Epub 2019 Nov 15.

Department of Health, Clinical Genetic Service, Kowloon, Hong Kong.

CHARGE syndrome (CS) is a multiple congenital anomalies condition with the majority of cases caused by dominant loss-of-function mutations of the CHD7 gene. It is clinically characterized by coloboma of the eyes, heart defects, choanal atresia, retardation of growth and/or development, genital and/or urinary anomalies and ear malformations associated with deafness and vestibular disorder(s). This case series reported nine molecularly confirmed Chinese CS patients from nine unrelated families in Hong Kong. Read More

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http://dx.doi.org/10.1002/ajmg.a.61398DOI Listing
January 2020

Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.

J Clin Endocrinol Metab 2020 May;105(5)

School of Life Sciences, Central South University, Changsha, Hunan, China.

Purpose: Idiopathic hypogonadotropic hypogonadism (IHH) and CHARGE (C, coloboma; H, heart abnormalities; A, choanal atresia, R, retardation of growth and/or development; G, gonadal defects; E, ear deformities and deafness) syndrome are 2 distinct developmental disorders sharing features of hypogonadism and/or impaired olfaction. CHD7 variants contribute to >60% CHARGE syndrome and ~10% IHH patients. A variety of extended CHARGE-like features are frequently reported in CHARGE patients harboring CHD7 variants. Read More

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http://dx.doi.org/10.1210/clinem/dgz182DOI Listing
May 2020
1 Read

Aggressive-like behavior and increased glycine transporters in a zebrafish model of CHARGE syndrome.

Authors:
Hui Liu Zhi-Zhi Liu

Behav Brain Res 2020 Jan 11;378:112293. Epub 2019 Oct 11.

Lab of Neural Development and Diseases, Institute of Life Science, Nanchang University, Nanchang, Jiangxi Province, China; School of Life Sciences, Nanchang University, Nanchang, Jiangxi Province, China; Jiangxi Provincial Collaborative Innovation Center for Cardiovascular Digestive and Neuropsychiatric Diseases, Nanchang, Jiangxi Province, China. Electronic address:

Coloboma, heart defects, choanal atresia, restricted growth and development, genital hypoplasia, ear abnormalities and/or hearing loss (CHARGE) syndrome is a congenital disorder that is mainly caused by mutations within chromodomain helicase DNA-binding protein 7 (chd7). Behavioral abnormalities have been addressed in CHARGE syndrome, but the underlying mechanisms are still poorly understood. Here, we performed four behavioral tests-including the open-field test, novel-tank test, shoaling test and mirror-induced attack test-in chd7 heterozygous zebrafish mutants in order to characterize the behavioral abnormalities in a zebrafish model of CHARGE syndrome. Read More

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http://dx.doi.org/10.1016/j.bbr.2019.112293DOI Listing
January 2020
1 Read

[Endoscopic reconstruction of the posterior nares for the treatment of 46 children with congenital posterior atresia].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Aug;33(8):742-745

Department of Infection,Nanjing Children's Hospital Affiliated to Nanjing Medical University.

The aim of this study is to explore the influencing factors of the posterior nostril re-atresia by analyzing the clinical data of endoscopic posterior nostril reconstruction in the children with posterior nostril atresia. Retrospectively reviewed 46 pediatric patients with congenital choanal atresia who underwent endoscopic posterior nostril reconstruction. Randomly divided the cases into the atresia group(19 cases) and the non-atresia group(27 cases) according to whether the new posterior nostril re-atresia again. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2019.08.014DOI Listing
August 2019
1 Read

Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.

Genetics 2019 10 16;213(2):685-703. Epub 2019 Aug 16.

Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114

Structural maintenance of chromosomes flexible hinge domain-containing 1 (SMCHD1) is an architectural factor critical for X-chromosome inactivation (XCI) and the repression of select autosomal gene clusters. In mice, homozygous nonsense mutations in cause female-specific embryonic lethality due to an XCI defect. However, although human mutations in are associated with congenital arhinia and facioscapulohumeral muscular dystrophy type 2 (FSHD2), the diseases do not show a sex-specific bias, despite the essential nature of XCI in humans. Read More

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http://dx.doi.org/10.1534/genetics.119.302600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6781896PMC
October 2019
5 Reads

Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report.

Exp Ther Med 2019 Aug 20;18(2):1267-1275. Epub 2019 Jun 20.

Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.

Trisomy 16q is a rare disorder with severe abnormalities, which always leads to early postnatal mortality. It usually results from a parental translocation, exhibiting 16q duplication associated with another chromosomal deletion. The present study reports on the clinical presentation and molecular cytogenetic results of a small-for-gestational-age infant, consisting of partial trisomy 16q21→qter and monosomy 2p25. Read More

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http://dx.doi.org/10.3892/etm.2019.7695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614715PMC
August 2019
4 Reads

Innovations in Endonasal Sinus Surgery in Children.

Otolaryngol Clin North Am 2019 Oct 26;52(5):875-890. Epub 2019 Jul 26.

Northwestern University, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Box 40, Chicago, IL 60611, USA. Electronic address:

Although there have been many advances in new tools and procedures for endonasal sinus surgery in children, the management and care for pediatric chronic rhinosinusitis has remained relatively unchanged. However, there have been advances in skull base surgery and tumor removal and new knowledge about perioperative concerns in children. This article discusses the role and risks of endoscopic sinus surgery, the use of balloon sinuplasty in children, management of complicated rhinosinusitis, and advances in skull base tumors and choanal atresia repair. Read More

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http://dx.doi.org/10.1016/j.otc.2019.06.003DOI Listing
October 2019
3 Reads

Flexible Fiberoptic Bronchoscopy Directed Interventions in Neonatal Intensive Care Unit.

Indian Pediatr 2019 07;56(7):563-565

Department of Pediatrics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

Objective: To describe the utility of flexible fiberoptic bronchoscopy for the diagnosis and management in the neonatal ICU.

Methods: A retrospective, medical chart review was conducted in neonates who underwent flexible fiberoptic bronchoscopy over a period of 7 years. Besides demographic data and diagnostic findings, the results of medical and/or surgical interventions done by treating neonatologist were recorded. Read More

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July 2019
4 Reads
1.014 Impact Factor

A case of right ductus and left innominate artery from the pulmonary trunk.

Asian Cardiovasc Thorac Ann 2020 Jan 18;28(1):45-47. Epub 2019 Jul 18.

Department of Cardiovascular Surgery, Children Heart Center, National Children's Hospital, Hanoi, Vietnam.

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http://dx.doi.org/10.1177/0218492319865425DOI Listing
January 2020
2 Reads

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

J Med Genet 2019 10 26;56(10):693-700. Epub 2019 Jun 26.

Human Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands.

Background: Variants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 () can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). In FSHD2, pathogenic variants are found anywhere in SMCHD1 while in BAMS, pathogenic variants are restricted to the extended ATPase domain. Irrespective of the phenotypic outcome, both FSHD2-associated and BAMS-associated variants result in quantifiable local DNA hypomethylation. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800092PMC
October 2019
3 Reads

Anesthesia management in patients with choanal atresia.

Proc (Bayl Univ Med Cent) 2019 Apr 23;32(2):202-205. Epub 2019 Apr 23.

Department of Otorhinolaryngology, School of Medicine, Kahramanmaraş Sütçü İmam ÜniversitesiKahramanmarasTurkey.

In this retrospective study, we reviewed the anesthesia management of patients with choanal atresia (CA). Fourteen patients undergoing surgery for CA between June 2007 and September 2018 were evaluated for age, gender, CA side, complications, American Society of Anesthesiologists score, duration of anesthesia, and presence of any additional anomalies. Six patients (42%) had bilateral atresia, and 8 (58%) had unilateral atresia. Read More

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http://dx.doi.org/10.1080/08998280.2019.1573630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541064PMC
April 2019
6 Reads

Quantitative brain morphological analysis in CHARGE syndrome.

Neuroimage Clin 2019 21;23:101866. Epub 2019 May 21.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

CHARGE syndrome (CS) is a rare congenital syndrome characterized by coloboma, heart anomaly, choanal atresia, retardation of growth and development, and genital and ear anomalies. While several neuroimaging studies have revealed abnormalities such as hypoplasia of the semicircular canal, olfactory nerve, cerebellum, and brainstem, no quantitative analysis of brain morphology in CS has been reported. We quantitatively investigated brain morphology in CS participants using structural magnetic resonance imaging (MRI) (N = 10, mean age 14. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22131582193021
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http://dx.doi.org/10.1016/j.nicl.2019.101866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543177PMC
June 2020
11 Reads

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

BMC Med Genet 2019 05 30;20(1):93. Epub 2019 May 30.

Departments of Neonatology, Children's Hospital of Fudan University, Shanghai, 201102, China.

Background: CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant manner. Currently, the phenotype spectrum of CHARGE syndrome in neonatal population remain elusive. Read More

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http://dx.doi.org/10.1186/s12881-019-0813-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543684PMC
May 2019
22 Reads

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.

Eur J Endocrinol 2019 Aug;181(2):121-128

Department of General Paediatrics, Neonatology and Paediatric Cardiology, Medical Faculty, University Children's Hospital Düsseldorf, Düsseldorf, Germany.

Objective: Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated with HH. We report Rubinstein-Taybi syndrome (RSTS) as one of the possible causes of persistent HH. Read More

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http://dx.doi.org/10.1530/EJE-19-0119DOI Listing
August 2019
38 Reads

Choanal Atresia Repair in Pediatric Patients: Is the Use of Stents Recommended?

Cureus 2019 Mar 8;11(3):e4206. Epub 2019 Mar 8.

Miscellaneous, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SAU.

Choanal atresia, the obliteration or narrowing of nasal choana, is widely studied across the pediatric and adult population. While unilateral choanal atresia can remain unidentified for several years, bilateral choanal atresia requires immediate intervention, as children are primarily nasal breathers until the initial four months of age. Several surgical methods are reported for repairing choanal atresia in children, and the choice of postoperative management with or without stents is still controversial. Read More

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http://dx.doi.org/10.7759/cureus.4206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505726PMC
March 2019
7 Reads

International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Diagnosis, pre-operative, operative and post-operative pediatric choanal atresia care.

Int J Pediatr Otorhinolaryngol 2019 Aug 13;123:151-155. Epub 2019 May 13.

La Timone Children's Hospital, Aix-Marseille Université, Marseille, France.

Objective: To provide recommendations to otolaryngologists and allied physicians for the comprehensive management of young infants who present with signs or symptoms of choanal atresia.

Methods: A two-iterative delphi method questionnaire was used to establish expert recommendations by the members of the International Otolaryngology Group (IPOG), on the diagnostic, intra-operative, post-operative and revision surgery considerations.

Results: Twenty-eight members completed the survey, in 22 tertiary-care center departments representing 8 countries. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.05.010DOI Listing
August 2019
20 Reads
1.319 Impact Factor

Short-Term Risk Factor Profile of Pediatric Choanal Atresia Repair Using ACS-NSQIP National Database.

Ann Otol Rhinol Laryngol 2019 Sep 8;128(9):855-861. Epub 2019 May 8.

1 Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, Charleston, South Carolina, USA.

Objectives: The goal of this study is to describe the 30-day postoperative sequelae of pediatric choanal atresia repair and identify predictive factors for adverse events.

Study Design: The American College of Surgeons' National Surgery Quality Improvement Program-Pediatric (NSQIP-P) database was searched between January 2012 and December 2015 to identify pediatric patients status post choanal atresia repair. Postoperative outcomes included surgical site complications, readmissions, and total length of stay. Read More

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http://dx.doi.org/10.1177/0003489419848457DOI Listing
September 2019
5 Reads

Duplication in the Gene Associated With Severe CHARGE Syndrome.

Genomics Insights 2019 2;12:1178631019839010. Epub 2019 Apr 2.

Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.

CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in have been shown to cause CHARGE syndrome. Here, we report the identification of a novel p. Read More

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http://dx.doi.org/10.1177/1178631019839010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446253PMC
April 2019
7 Reads