1,332 results match your criteria Choanal Atresia


[Operative technique and follow-up effect of endoscopic congenital choanal atresia and dilatation].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Apr;33(4):367-370

To discuss the operative technique and follow-up effect of endoscopic dilatation and plasty for congenital choanal atresia in infants. Clinical data of 7 children with congenital choanal atresia operative treatmented during September 2016 to January 2018 were analyzed retrospectively. the follow-up were followed closely and analyz the operative effect. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2019.04.019DOI Listing
April 2019
2 Reads

A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.

Ann Pediatr Endocrinol Metab 2019 Mar 31;24(1):49-54. Epub 2019 Mar 31.

Department of Pediatric Endocrinology and Diabetology, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.

Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities and/or hearing loss). Herein, we present a clinical case of a 14-year-old male presenting for evaluation of poor growth and pubertal delay highlighting the diagnostic challenges of CHARGE syndrome. The patient was born full term and underwent surgery at 5 days of life for bilateral choanal atresia. Read More

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http://dx.doi.org/10.6065/apem.2019.24.1.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449621PMC
March 2019
2 Reads

Female-restricted syndromic intellectual disability in a patient from Thailand.

Am J Med Genet A 2019 May 3;179(5):758-761. Epub 2019 Mar 3.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Female-restricted syndromic intellectual disability (ID) is a neurodevelopmental disorder with developmental delay (DD)/ID, facial dysmorphism, and diverse congenital anomalies comprising heart defects, anal anomalies, choanal atresia, postaxial polydactyly, scoliosis, and brain abnormalities. Loss-of-function mutations in the USP9X gene inherited as X-linked dominance were identified as its etiology in females of different ethnic groups. Here, we report a 15-year-old Thai girl harboring a novel de novo heterozygous one-base pair deletion (c. Read More

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http://dx.doi.org/10.1002/ajmg.a.61106DOI Listing
May 2019
2 Reads

Infant Midnasal Stenosis: Reliability of Nasal Metrics.

AJNR Am J Neuroradiol 2019 Mar 14;40(3):562-567. Epub 2019 Feb 14.

Division of Pediatric Otolaryngology-Head and Neck Surgery (K.M.L., S.H.P., J.R.S.), University of Utah and Primary Children's Hospital, Salt Lake City, Utah

Background And Purpose: Midnasal stenosis is a poorly defined entity that may be a component of other conditions of nasal obstruction contributing to respiratory distress in infants. We sought to establish whether midnasal vault narrowing is a component of well-defined syndromes of nasal narrowing, such as bilateral choanal atresia and pyriform aperture stenosis, and to characterize the nasal anatomy of patients with syndromic craniosynostosis.

Materials And Methods: A convenience sample of patients with pyriform aperture stenosis, bilateral choanal atresia, and Apert and Crouzon syndromes with maxillofacial CT scans was identified. Read More

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http://dx.doi.org/10.3174/ajnr.A5980DOI Listing
March 2019
2 Reads

Immediate versus delayed surgery in congenital choanal atresia: A systematic review.

Int J Pediatr Otorhinolaryngol 2019 Apr 4;119:47-53. Epub 2019 Jan 4.

University of Ottawa, Department of Otolaryngology - Head and Neck Surgery, Ottawa, ON, Canada; The Ottawa Hospital, Department of Otolaryngology - Head and Neck Surgery, Ottawa, ON, Canada. Electronic address:

Objectives: To evaluate immediate versus delayed surgical intervention on treatment outcomes in the management of congenital choanal atresia.

Methods: This study adhered to Preferred Reporting Items for Systematic Review and Meta-Analysis guidelines in reporting a systematic review of the literature. OVID Medline, EMBASE and Pubmed databases were searched using relevant key terms. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.01.001DOI Listing
April 2019
5 Reads

Reducing the need for general anesthesia in the repair of choanal atresia with steroid-eluting stents: A case series.

Int J Pediatr Otorhinolaryngol 2019 Mar 7;118:185-187. Epub 2019 Jan 7.

Department of Otolaryngology - Head and Neck Surgery, The Cleveland Clinic, Cleveland, OH, United States.

Introduction: Choanal atresia (CA) is a rare pediatric congenital disorder resulting in upper airway obstruction and respiratory distress in the setting of obligate nasal breathing in infants. In 2016, a novel technique was reported in the literature utilizing drug-eluting stents to correct CA. However, 2 out of 3 patients in the study required a second operation under general anesthesia. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.01.004DOI Listing
March 2019
4 Reads

Completely Endoscopic Approach Using a Skeeter Drill to Treat Bilateral Congenital Choanal Atresia in a 33 Week Born Pre-term Baby.

Indian J Otolaryngol Head Neck Surg 2018 Dec 4;70(4):608-610. Epub 2018 Jun 4.

3Care Hospitals, Hyderabad, India.

Choanal atresia (CA) is a relatively rare condition manifesting with respiratory distress. Endoscopic approaches have superseded transnasal and transpalatal approaches. We present a case of a premature baby of 1. Read More

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http://dx.doi.org/10.1007/s12070-018-1406-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224814PMC
December 2018
16 Reads

Unmasking familial CPX by WES and identification of novel clinical signs.

Am J Med Genet A 2018 Dec 21;176(12):2661-2667. Epub 2018 Nov 21.

Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

Mutations in the T-Box transcription factor gene TBX22 are found in X-linked Cleft Palate with or without Ankyloglossia syndrome (CPX syndrome). In addition to X-linked inheritance, ankyloglossia, present in the majority of CPX patients, is an important diagnostic marker, but it is frequently missed or unreported, as it is a "minor" feature. Other described anomalies include cleft lip, micro and/or hypodontia, and features of CHARGE syndrome. Read More

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http://dx.doi.org/10.1002/ajmg.a.40630DOI Listing
December 2018
3 Reads

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.

Hum Mol Genet 2018 Nov 15. Epub 2018 Nov 15.

Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

The syndromic form of congenital sodium diarrhea (SCSD) is caused by bi-allelic mutations in SPINT2, which encodes a Kunitz type serine protease inhibitor (HAI-2). We report three novel SCSD patients, two novel SPINT2 mutations, and review published cases. The most common findings in SCSD patients were choanal atresia (20/34), and keratitis of infantile onset (26/34). Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/hmg/ddy394DOI Listing
November 2018
16 Reads

Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.

Auris Nasus Larynx 2018 Nov 2. Epub 2018 Nov 2.

Shizuoka Prefectural Hospital Organization, Department of Medical Genetics, Shizuoka, Japan.

Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03858146183069
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http://dx.doi.org/10.1016/j.anl.2018.10.005DOI Listing
November 2018
14 Reads

Choanal Atresia and Other Neonatal Nasal Anomalies.

Clin Perinatol 2018 12 18;45(4):751-767. Epub 2018 Sep 18.

Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, 601 North Caroline Street, Room 6161B, Baltimore, MD 21287, USA.

Congenital nasal deformities can cause nasal obstruction with early respiratory distress. Choanal atresia is characterized by no communication between the nasal cavity and nasopharynx. Pyriform aperture stenosis involves more anterior nasal obstruction with limited intranasal space. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00955108183139
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http://dx.doi.org/10.1016/j.clp.2018.07.011DOI Listing
December 2018
27 Reads

Phenotypic spectrum of CHARGE syndrome based on clinical characteristics

Turk J Med Sci 2018 Oct 31;48(5):911-915. Epub 2018 Oct 31.

Background/aim: CHARGE syndrome is a rare autosomal dominant disease with multiple congenital anomalies and cognitive impairment, which is caused by mutations in the CHD7 gene. This study aimed to disclose the mild end of the phenotypic spectrum of CHARGE syndrome, which has a highly variable expressivity. Materials and methods: Twenty-one patients who had at least one of the major symptoms of CHARGE syndrome (coloboma, choanal atresia, characteristic ear anomalies, semicircular canal hypoplasia, and cranial nerve anomalies) were included in the study. Read More

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http://dx.doi.org/10.3906/sag-1611-107DOI Listing
October 2018
8 Reads

Skull base anatomy and surgical safety in isolated and CHARGE-associated bilateral choanal atresia.

Int J Pediatr Otorhinolaryngol 2018 Dec 14;115:61-64. Epub 2018 Sep 14.

Department of Otolaryngology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, University of Melbourne, Victoria, Australia.

Introduction: Bilateral choanal atresia (BCA) is associated with a high incidence of congenital abnormalities that include skull base anomalies and defects. Surgical repair of BCA is necessary in the early neonatal period and any altered anatomy of the adjacent skull base will heighten the risk of intracranial injury. This risk may be further increased in patients with CHARGE syndrome. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183046
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http://dx.doi.org/10.1016/j.ijporl.2018.09.009DOI Listing
December 2018
18 Reads

Choanal atresia and stenosis: Development and diseases of the nasal cavity.

Authors:
Hiroshi Kurosaka

Wiley Interdiscip Rev Dev Biol 2019 Jan 15;8(1):e336. Epub 2018 Oct 15.

Department of Orthodontics and Dentofacial Orthopedics, Graduate School of Dentistry, Osaka University, Osaka, Japan.

Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead to craniofacial anomalies such as facial clefting, which has been well studied with regard to its molecular etiology and cellular pathogenesis. Nasal cavity invagination is also a critical event in proper craniofacial development, and is required for the formation of a functional nasal cavity and airway. Read More

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http://doi.wiley.com/10.1002/wdev.336
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http://dx.doi.org/10.1002/wdev.336DOI Listing
January 2019
24 Reads

Prognostic Factors and Management of Patients with Choanal Atresia.

J Pediatr 2019 01 2;204:234-239.e1. Epub 2018 Oct 2.

Department of Pediatric Otolaryngology Head and Neck Surgery, La Timone Children's Hospital (Aix-Marseille University), Marseille, France.

Objective: To analyze prognostic factors in the management of patients with choanal atresia.

Study Design: This is a review of 114 patients operated on for choanal atresia in a tertiary care center between November 1986 and November 2016, including clinical characteristics, surgical management, and postoperative course with final nasal patency. The data were collected in a database that was updated over time. Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.08.074DOI Listing
January 2019
14 Reads

Circumaortic double left innominate vein: Two novel echocardiographic diagnostic clues for a tricky diagnosis.

Echocardiography 2018 11 17;35(11):1898-1900. Epub 2018 Sep 17.

Pediatric Interventional Cardiologist, Children's Medical Center (Pediatric Center of Excellence), Affiliated to Tehran University of Medical Sciences, Tehran, Iran.

We report a 7-year-old boy with unilateral choanal atresia who was referred for cardiac consultation before surgery. On echocardiography, the heart was normal except the presence of a double-circle appearance and a V-shaped structure on the suprasternal notch view. Cardiac computed tomography (CT) angiography confirmed the diagnosis of the double left innominate vein (DLIV). Read More

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http://dx.doi.org/10.1111/echo.14137DOI Listing
November 2018
9 Reads
1.254 Impact Factor

Congenital Choanal Atresia Repair: An Analysis of Adverse Perioperative Events.

Otolaryngol Head Neck Surg 2018 Nov 28;159(5):920-926. Epub 2018 Aug 28.

2 Department of Otolaryngology-Head and Neck Surgery, School of Medicine, West Virginia University, Morgantown, West Virginia, USA.

Objectives: To identify risk factors and determine the perioperative morbidity of infants undergoing congenital choanal atresia (CCA) repair.

Study Design: Retrospective analysis of the ACS-NSQIP-P database (American College of Surgeons National Surgical Quality Improvement-Pediatric).

Setting: Tertiary medical center. Read More

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http://journals.sagepub.com/doi/10.1177/0194599818797282
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http://dx.doi.org/10.1177/0194599818797282DOI Listing
November 2018
13 Reads

Pediatric Nasal Obstruction.

Otolaryngol Clin North Am 2018 Oct 19;51(5):971-985. Epub 2018 Jul 19.

Department of Otolaryngology, Upper Airway Center, Cincinnati Children's Hospital Medical Center, University of Cincinnati, 3333 Burnet Avenue, MLC 2018, Cincinnati, OH 45229, USA; Department of Pulmonary Medicine, Upper Airway Center, Cincinnati Children's Hospital Medical Center, University of Cincinnati, 3333 Burnet Avenue, MLC 2018, Cincinnati, OH 45229, USA. Electronic address:

Nasal obstruction is one of the most common problems seen by pediatric otolaryngologists. Prompt treatment of nasal obstruction can be critical in newborns and infants because of their obligatory nasal breathing. Older children will typically have more inflammatory, infectious, or traumatic causes of nasal obstruction. Read More

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http://dx.doi.org/10.1016/j.otc.2018.05.005DOI Listing
October 2018
34 Reads

A cost-effective treatment model in dystrophic epidermolysis bullosa with congenital absence of skin.

Dermatol Ther 2018 09 20;31(5):e12649. Epub 2018 Jul 20.

Department of Pediatrics, Division of Neonatology, Ataturk University Medical Faculty, Erzurum, Turkey.

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http://dx.doi.org/10.1111/dth.12649DOI Listing
September 2018
2 Reads

The Pathogenesis of Choanal Atresia.

JAMA Otolaryngol Head Neck Surg 2018 Aug;144(8):758-759

Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jamaoto.2018.1246DOI Listing
August 2018
11 Reads

Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.

BMC Pediatr 2018 06 26;18(1):203. Epub 2018 Jun 26.

Department of Neonatology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, China.

Background: CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7, which has been estimated to occur in 1:10,000 births worldwide. It is a genetic disorder closely resembles other pattern of anomalies. Genetic testing should be pointed out as a useful method for clinical diagnosis. Read More

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http://dx.doi.org/10.1186/s12887-018-1181-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020284PMC
June 2018
5 Reads

Diagnostic and Therapeutic Management of Nasal Airway Obstruction: Advances in Diagnosis and Treatment.

JAMA Facial Plast Surg 2018 Sep;20(5):409-418

Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston.

Importance: Nasal airway obstruction (NAO) is a common complaint in the otolaryngologist's office and can have a negative influence on quality of life (QOL). Existing diagnostic methods have improved, but little consensus exists on optimal tools. Furthermore, although surgical techniques for nasal obstruction continue to be developed, effective outcome measurement is lacking. Read More

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http://dx.doi.org/10.1001/jamafacial.2018.0279DOI Listing
September 2018
12 Reads

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

J Biol Chem 2018 06 10;293(25):9841-9853. Epub 2018 May 10.

From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia,

Structural maintenance of chromosomes flexible hinge domain-containing 1 (Smchd1) plays important roles in epigenetic silencing and normal mammalian development. Recently, heterozygous mutations in have been reported in two disparate disorders: facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS). FSHD2-associated mutations lead to loss of function; however, whether BAMS is associated with loss- or gain-of-function mutations in SMCHD1 is unclear. Read More

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http://dx.doi.org/10.1074/jbc.RA118.003104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016475PMC
June 2018
3 Reads

Iatrogenic traumatic optic neuropathy: report of an injury occurring during a choanal atresia correction surgery treatment.

J Biol Regul Homeost Agents 2018 Mar-Apr;32(2 Suppl. 2):87-90

Section of Oral and Maxillofacial Surgery, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy.

We report the case of a 36-year-old adult male patient who came to our attention for the evaluation of a possible iatrogenic injury suffered during the surgical correction of congenital choanal atresia. This case report retraces the patient's medical history and the events lapsed in the peri-operative time analyzing if any malpractice has occurred in causing the amaurosis. Read More

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April 2019
5 Reads

Clival Malformations in CHARGE Syndrome.

AJNR Am J Neuroradiol 2018 Jun 5;39(6):1153-1156. Epub 2018 Apr 5.

From the Department of Diagnostic Imaging and Radiology (E.S.M., M.T.W.), Children's National Medical Center, Washington, DC.

Background And Purpose: CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Read More

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http://dx.doi.org/10.3174/ajnr.A5612DOI Listing
June 2018
5 Reads

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).

Am J Med Genet A 2018 04;176(4):997-1000

Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, California.

Congenital sodium diarrhea is a rare and life-threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis. It may occur in isolation or in association with systemic features such as facial dysmorphism, choanal atresia, imperforate anus, and corneal erosions. Mutations in the serine protease inhibitor, Kunitz-Type 2 (SPINT2) gene have been associated with congenital sodium diarrhea and additional syndromic features. Read More

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http://dx.doi.org/10.1002/ajmg.a.38637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5875720PMC
April 2018
6 Reads

[Diagnostics and management of choanal atresia].

HNO 2018 Apr;66(4):329-338

HNO-Klinik, Klinikum Stuttgart, Stuttgart, Deutschland.

Choanal atresia is a rare malformation that represents a special challenge. While bilateral choanal atresia usually needs to be surgically treated within a few days of birth, the intervention for one-sided choanal atresia can be postponed for years. Treatment planning requires adequate imaging (CT or MRI), which also serves to exclude other skull base malformities. Read More

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http://link.springer.com/10.1007/s00106-018-0492-7
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http://dx.doi.org/10.1007/s00106-018-0492-7DOI Listing
April 2018
8 Reads

Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.

Eur J Med Res 2018 Mar 2;23(1):13. Epub 2018 Mar 2.

Department of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

Background: Choanal (CA) and gastrointestinal atresias (GA) are an important feature of syndromic congenital sodium diarrhea (sCSD), a disorder recently associated with mutations in the gene for serine protease inhibitor type 2 (SPINT2). It is, however, not known whether isolated non-syndromic CA and GA themselves might result from SPINT2 mutations.

Methods: We performed a prospective cohort study to investigate 19 CA and/or GA patients without diarrhea ("non-sCSD") for potential sCSD characteristic clinical features and SPINT2 mutations. Read More

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http://dx.doi.org/10.1186/s40001-018-0312-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834866PMC
March 2018
12 Reads

Dealing a Neonate with CHARGE Syndrome:Anaesthesia perspective of perioperative care.

Pak J Med Sci 2017 Nov-Dec;33(6):1534-1537

Dr. Amjad Nadeem, FCPS. Department of Anaesthesia, Aga Khan University Hospital Karachi, Pakistan.

CHARGE syndrome is a condition that can disturb numerous areas of human body. As an abbreviation CHARGE stands for: coloboma, heart defects, atresia choanae, and retardation of growth, genital, and ear abnormalities. The configuration of malformations differs among individuals with this disorder, and the various health issues can be life-threatening during infancy and childhood. Read More

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http://dx.doi.org/10.12669/pjms.336.13558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5768860PMC
March 2018
5 Reads

Early Transient Prenatal Ultrasound Features of Choanal Atresia.

J Ultrasound Med 2018 Oct 26;37(10):2439-2444. Epub 2018 Feb 26.

Helen Schneider Hospital for Women, Rabin Medical Center, Petach-Tikva, Israel.

We present a case series of early second-trimester prenatal ultrasound (US) features in 4 fetuses with a confirmed diagnosis of choanal atresia. The clinical characteristics and outcomes evaluated included prenatal US findings, genetic analyses, postmortem autopsies (2 cases), and computed tomographic findings. A transient large nasal cavity was detected by US in all 4 fetuses. Read More

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http://dx.doi.org/10.1002/jum.14586DOI Listing
October 2018
5 Reads

Choanal Atresia: Birth Without Breath.

Indian J Otolaryngol Head Neck Surg 2018 Mar 16;70(1):53-58. Epub 2017 Oct 16.

2Department of ENT, Government Medical College, Bhavnagar, Gujarat India.

Bilateral Choanal atresia is a medical emergency. Corrective surgery is the mainstay of the treatment. Hegar's dilator was used in all cases to break the bony/membranous atretic plate. Read More

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http://dx.doi.org/10.1007/s12070-017-1220-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5807299PMC
March 2018
10 Reads

Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management.

Cleft Palate Craniofac J 2018 03 14;55(3):342-347. Epub 2017 Dec 14.

1 Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA, USA.

Objective: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children.

Design: This is a retrospective review from 1998 to 2016. Read More

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http://dx.doi.org/10.1177/1055665617738994DOI Listing
March 2018
5 Reads

[Endonasal endoscopic surgery of choanal atresia - long term results].

Laryngorhinootologie 2018 Feb 8. Epub 2018 Feb 8.

Universitätsklinikum Essen Klinik für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie.

Introduction:  Choanal atresia is a rare abnormality. As neonates depend on transnasal respiration, bilateral choanal atresia causes an acute emergency. Transnasal endoscopic resection of congenital choanal atresia is a well-established therapy. Read More

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http://dx.doi.org/10.1055/s-0044-101464DOI Listing
February 2018
9 Reads

Stentless mirrored L-shaped septonasal flap versus stented flapless technique for endoscopic endonasal repair of bilateral congenital choanal atresia: a prospective randomised controlled study.

J Laryngol Otol 2018 Apr 16;132(4):329-335. Epub 2018 Jan 16.

Otolaryngology - Head and Neck Surgery Department,Faculty of Medicine,Tanta University,Egypt.

Objectives: To compare the outcomes of endoscopic repair of bilateral congenital choanal atresia using a flap technique without stenting versus endoscopic repair using stenting without a flap.

Methods: A prospective randomised controlled study was conducted, comprising 72 patients with bilateral congenital choanal atresia. The patients were randomised into two groups. Read More

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http://dx.doi.org/10.1017/S0022215117002614DOI Listing
April 2018
4 Reads

Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report.

Arch Argent Pediatr 2018 Feb;116(1):e130-e134

Tepecik Training and Research Hospital, Department of Neonatology, Izmir,Turkey.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Read More

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http://dx.doi.org/10.5546/aap.2018.eng.e130DOI Listing
February 2018
10 Reads

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in , a Gene Associated with Kabuki Syndrome: A Case Report.

Front Genet 2017 11;8:210. Epub 2017 Dec 11.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple endocrine deficiency, and unilateral facial nerve palsy. She was clinically diagnosed with typical CHARGE syndrome, but genetic analysis using the TruSight One Sequence Panel revealed a germline heterozygous mutation in with no pathogenic alterations associated with CHARGE syndrome. Kabuki syndrome is a rare multisystem disorder characterized by five cardinal manifestations including typical facial features, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate intellectual disability, and postnatal growth deficiency. Read More

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http://dx.doi.org/10.3389/fgene.2017.00210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732153PMC
December 2017
6 Reads

Choanal Atresia and Craniosynostosis: Development and Disease.

Plast Reconstr Surg 2018 01;141(1):156-168

University Park, Pa.; New York, N.Y.; and Pessac, France From the Department of Anthropology, Pennsylvania State University; the Departments of Genetics and Genomic Sciences and Otolaryngology, Icahn School of Medicine at Mount Sinai; and the University of Bordeaux, Bordeaux Archaeological Sciences Cluster of Excellence.

A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Read More

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http://dx.doi.org/10.1097/PRS.0000000000003928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747311PMC
January 2018
11 Reads

The use of nasal trumpet as a non-invasive treatment method in congenital nasal stenosis.

Turk J Pediatr 2017 ;59(2):210-213

Departments of Pediatrics, Ondokuz Mayıs University Faculty of Medicine, Samsun, Turkey.

Kemal Ö, Atmaca S, Bel-Çeçen A, Düzgün B, Aygün HC. The use of nasal trumpet as a non-invasive treatment method in congenital nasal stenosis. Turk J Pediatr 2017; 59: 210-213. Read More

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http://dx.doi.org/10.24953/turkjped.2017.02.017DOI Listing
November 2018
16 Reads

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Am J Med Genet C Semin Med Genet 2017 12 27;175(4):417-430. Epub 2017 Nov 27.

Service de Génétique, CHU de Poitiers, Poitiers, France.

CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. The detection rate of a pathogenic variant in the CHD7 gene varies from 67% to 90%. Read More

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http://dx.doi.org/10.1002/ajmg.c.31591DOI Listing
December 2017
50 Reads

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.

Am J Med Genet A 2017 Dec;173(12):3136-3142

Equipe GAD, INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.

Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. Read More

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http://dx.doi.org/10.1002/ajmg.a.38490DOI Listing
December 2017
30 Reads

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.

Eur J Med Genet 2018 Mar 10;61(3):125-129. Epub 2017 Nov 10.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada. Electronic address:

Many disease genes are defined by their role in causing specific clinically recognizable syndromes. Heterozygous loss of function of the gene EP300 is responsible for a minority of cases of Rubinstein-Taybi syndrome (RSTS). With the application of whole-exome sequencing and whole-genome sequencing, there is the potential to discover new genotype-phenotype correlations. Read More

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http://dx.doi.org/10.1016/j.ejmg.2017.11.002DOI Listing
March 2018
20 Reads

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

Am J Med Genet A 2018 01 12;176(1):75-81. Epub 2017 Nov 12.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail. Read More

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http://dx.doi.org/10.1002/ajmg.a.38516DOI Listing
January 2018
9 Reads

Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.

Am J Med Genet C Semin Med Genet 2017 12 31;175(4):407-416. Epub 2017 Oct 31.

Saint Louis University School of Medicine, Saint Louis, Missouri.

CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. Read More

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http://dx.doi.org/10.1002/ajmg.c.31589DOI Listing
December 2017
4 Reads

Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of from the Embryonic Mid-Hindbrain Region.

Front Neuroanat 2017 4;11:86. Epub 2017 Oct 4.

Centre for Craniofacial and Regenerative Biology, King's College London, London, United Kingdom.

Reduced fibroblast growth factor (FGF) signaling from the mid-hindbrain or isthmus organizer (IsO) during early embryonic development results in hypoplasia of the midbrain and cerebellar vermis. We previously reported evidence for reduced expression and FGF signaling in the mid-hindbrain region of embryos heterozygous for , the gene mutated in CHARGE (Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genitourinary anomalies and Ear defects) syndrome. However, animals only exhibit mild cerebellar vermis anomalies. Read More

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http://dx.doi.org/10.3389/fnana.2017.00086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632662PMC
October 2017
12 Reads

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Eur J Hum Genet 2017 10 26;25(10):1126-1133. Epub 2017 Jul 26.

Clinical Genetics Department, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.

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. Read More

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http://dx.doi.org/10.1038/ejhg.2017.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602009PMC
October 2017
28 Reads

Carbimazole embryopathy.

Ann Endocrinol (Paris) 2017 Oct 1;78(5):478-480. Epub 2017 Sep 1.

Department of Endocrinology, Diabetes and Metabolism, Avicenne Military Hospital, Marrakech, Morocco. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2016.01.011DOI Listing
October 2017
4 Reads
0.664 Impact Factor