keyword
https://read.qxmd.com/read/32890936/magnetic-resonance-angiography-mra-in-preoperative-planning-for-patients-with-22q11-2-deletion-syndrome-undergoing-craniofacial-and-otorhinolaryngologic-procedures
#1
Rotem Kimia, Lisa Elden, Julia Dailey, Mallika Kodavatiganti, T Blaine Crowley, Daniel E McGinn, Alice Bailey, Elaine H Zackai, Donna M McDonald-McGinn, Oksana A Jackson
INTRODUCTION: Patients with 22q11.2 deletion syndrome (22q11.2DS) have a variety of anatomic anomalies. For surgeons operating in proximity to the retropharynx, the most pertinent is medial displacement of the internal carotid arteries. The purpose of this study is to describe the preoperative use of magnetic resonance angiography (MRA) in surgical planning and update the incidence rate of medial carotid displacement in patients with 22q11.2DS. METHODS: This is a retrospective cohort study of patients with a confirmed diagnosis of 22q11...
July 20, 2020: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/32573252/oronasal-fistula-risk-after-palate-repair
#2
Sarah Hatch Pollard, Jonathan R Skirko, Dallin Dance, Hans Reinemer, Duane Yamashiro, Natalee F Lyon, Dave S Collingridge
OBJECTIVE: To assess risk factors for oronasal fistula, including 2-stage palate repair. DESIGN: Retrospective analysis. SETTING: Tertiary children's hospital. PATIENTS: Patients with non-submucosal cleft palate whose entire cleft repair was completed at the study hospital between 2005 and 2013 with postsurgical follow-up. INTERVENTIONS: Hierarchical binary logistic regression assessed predictive value of variables for fistula...
June 23, 2020: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/32536504/surgical-management-in-a-severe-osa-patient-diagnosed-with-stickler-syndrome
#3
So Young Jeon, Oh Eun Kwon, Jin Woo Jang, Sang Yoon Kang, Jin-Young Min, Sung Wan Kim
Stickler syndrome is a genetic disorder of connective tissue. One of the major symptoms associated with this disorder is an oro-facial malformation, which may cause a submucous cleft or a complete cleft of the hard palate. A 32-year-old man diagnosed with Stickler syndrome and a submucosal cleft palate (SMCP) visited our hospital with a chief complaint of excessive daytime sleepiness. The patient was diagnosed with severe obstructive sleep apnea (OSA), and administration of a polysomnography test revealed an apnea-hypopnea index (AHI) of 30...
June 11, 2020: Auris, Nasus, Larynx
https://read.qxmd.com/read/32459926/submucosal-cleft-palate
#4
Omar Bargas
New England Journal of Medicine, Volume 382, Issue 22, May 2020.
May 28, 2020: New England Journal of Medicine
https://read.qxmd.com/read/31299813/partial-adenoidectomy-in-patients-with-palatal-abnormalities
#5
Ingrid Salna, Joshua Jervis-Bardy, David Wabnitz, Guy Rees, Alkis Psaltis, Adam Johnson
BACKGROUND: Velopharyngeal insufficiency is a feared complication of adenoidectomies in patients with palatal abnormalities. Thus, the benefits of adenoidectomy in this population are less understood. The techniques of partial adenoidectomy aim to preserve velopharyngeal closure while sufficiently debulking the nasal airway to ameliorate obstruction and snoring. METHODOLOGY: Systematic review of online databases using a combination of search terms including "cleft palate," "submucosal cleft palate," "short palate," "adenoidectomy," "partial adenoidectomy," "subtotal adenoidectomy," and "powered adenoidectomy...
July 2019: Journal of Craniofacial Surgery
https://read.qxmd.com/read/30946036/microdeletion-of-the-entire-irf6-gene-in-a-subsaharian-african-s-family-with-van-der-woude-syndrome
#6
Sébastien Mbuyi-Musanzayi, Eric I Kasamba, Nicole Revencu, Prosper T Lukusa, Prosper M Kalenga, François K Tshilombo, Hervé Reychler, Koenraad Devriendt
Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate...
April 2, 2019: Clinical Dysmorphology
https://read.qxmd.com/read/28886940/incidence-of-bifid-uvula-and-its-relationship-to-submucous-cleft-palate-and-a-family-history-of-oral-cleft-in-the-brazilian-population
#7
Sizina Aguiar G Sales, Maria Luiza Santos, Renato Assis Machado, Verônica Oliveira Dias, Jairo Evangelista Nascimento, Mario Sérgio Oliveira Swerts, Hercílio Martelli Júnior, Daniella Reis Barbosa Martelli
INTRODUCTION: Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. OBJECTIVE: In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. METHODS: We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light...
August 24, 2017: Brazilian Journal of Otorhinolaryngology
https://read.qxmd.com/read/28081210/mutations-in-hyal2-encoding-hyaluronidase-2-cause-a-syndrome-of-orofacial-clefting-and-cor-triatriatum-sinister-in-humans-and-mice
#8
Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix...
January 2017: PLoS Genetics
https://read.qxmd.com/read/27526237/perforation-with-submucosal-cleft-palate-in-a-previously-undiagnosed-adult-patient
#9
Şeyda Güray Evin, Mehtap Karamese, Osman Akdag, Muhammed Nebil Selimoglu, Zekeriya Tosun
Perforation with a submucosal cleft palate (SMCP) is a rare condition with a limited number of cases reported in the literature. However, most described cases include neonates and infants, but not cases due to trauma or infection. Here, we present a case of an adult patient with SMCP with a perforation of the palate who was undiagnosed. In light of this case, diagnosis and treatment of perforation in SMCP are presented. A new diagram that can be used in the management of these patients with velopharyngeal insufficiency is proposed...
October 2016: Journal of Craniofacial Surgery
https://read.qxmd.com/read/27391507/congenital-fistula-of-the-hard-palate-with-submucosal-cleft-palate
#10
Yong Lu, Wei Han
No abstract text is available yet for this article.
July 2016: Journal of Craniofacial Surgery
https://read.qxmd.com/read/26322171/molecular-basis-of-cleft-palates-in-mice
#11
REVIEW
Noriko Funato, Masataka Nakamura, Hiromi Yanagisawa
Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo...
August 26, 2015: World Journal of Biological Chemistry
https://read.qxmd.com/read/26080188/congenital-lateral-cleft-palate-of-unknown-etiology
#12
Ahmet Kahraman, Serdar Yüce, Ömer Faruk Koçak, Yasin Canbaz, Dağhan Işik
The term cleft palate (CP) refers to midline defects extending from the prealveolar ark to the uvula, and these defects present with varying degrees. CP may be complete, incomplete, unilateral, bilateral, or submucosal. It is often observed with cleft lip (CL). In various studies, the incidence of isolated CP has been reported as 1.3 to 25.3 per 1000 births. As a result of deterioration of the anatomical structure of the palate, illnesses such as regurgitation, respiratory tract infections, otitis, and speech disorders may occur...
June 2015: Journal of Craniofacial Surgery
https://read.qxmd.com/read/25684075/use-of-hyperdry-amniotic-membrane-in-operations-for-cleft-palate-a-study-in-rats
#13
COMPARATIVE STUDY
Hiroaki Tsuno, Makoto Noguchi, Motonori Okabe, Kei Tomihara, Toshiko Yoshida, Toshio Nikaido
The growth of maxillary bone and the development of dentition are often impaired in patients who have had pushback operations for repair of a cleft palate. There has been considerable discussion about the most suitable technique or material used in such repairs to resolve the problem. Hyperdry amniotic membrane, a new preservable material derived from human amnion, has recently been introduced in several procedures. We have evaluated its use during pushback surgery in animal studies to try to correct the inhibition of growth and development of the maxilla...
April 2015: British Journal of Oral & Maxillofacial Surgery
https://read.qxmd.com/read/25468463/long-term-speech-outcomes-following-late-cleft-palate-repair-using-the-modified-furlow-technique
#14
Christina M Pasick, Paul L Shay, Carrie A Stransky, Cynthia B Solot, Marilyn A Cohen, Oksana A Jackson
OBJECTIVES: Published reports and previous studies from our institution have reported worse overall speech results, including significantly higher rates of persistent articulation errors, in patients undergoing palatoplasty at age >18 months. This study further investigates the effects of late repair on long term speech outcomes. METHODS: A retrospective review was performed of non-syndromic patients undergoing primary palatoplasty at age >18 months between 1980 and 2006 at our institution...
December 2014: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/25230004/19q13-32-microdeletion-syndrome-three-new-cases
#15
Angela Castillo, Nancy Kramer, Charles E Schwartz, Judith H Miles, Barbara R DuPont, Jill A Rosenfeld, John M Graham
A previous report described a unique phenotype associated with an apparently de novo 732 kb 19q13.32 microdeletion, consisting of intellectual disability, facial asymmetry, ptosis, oculomotor abnormalities, orofacial clefts, cardiac defects, scoliosis and chronic constipation. We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes. Both the previously reported patient and our Patient 1 with a larger, 1...
November 2014: European Journal of Medical Genetics
https://read.qxmd.com/read/25003402/a-35-year-experience-with-syndromic-cleft-palate-repair-operative-outcomes-and-long-term-speech-function
#16
Marten N Basta, Jason Silvestre, Carrie Stransky, Cynthia Solot, Marilyn Cohen, Donna McDonald-McGinn, Elaine Zackai, Richard Kirschner, David W Low, Peter Randall, Don LaRossa, Oksana A Jackson
BACKGROUND: Associated comorbidities can put syndromic patients with cleft palate at risk for poor speech outcomes. Reported rates of velopharyngeal insufficiency (VPI) vary from 8% to 64%, and need for secondary VPI surgery from 23% to 64%, with few studies providing long-term follow-up. The purpose of this study was to describe our institutional long-term experience with syndromic patients undergoing cleft palatoplasty. METHODS: A retrospective review was conducted of all patients with syndromic diagnoses undergoing primary Furlow palatoplasty from 1975 to 2011...
December 2014: Annals of Plastic Surgery
https://read.qxmd.com/read/24865192/microdeletions-involving-chromosomes-12-and-22-associated-with-syndromic-duane-retraction-syndrome
#17
Khaled K Abu-Amero, Altaf A Kondkar, Darren T Oystreck, Arif O Khan, Thomas M Bosley
BACKGROUND: Duane retraction syndrome (DRS) is the most common of the congenital cranial dysinnervation disorders (CCDDs). CCDDs can be monogenic or chromosomal in origin. Identification of the genetic cause(s) in patients and families with DRS facilitates definitive diagnosis and provides insights into these developmental errors. MATERIALS AND METHODS: This study described a young girl with DRS on the left and several additional developmental abnormalities. Clinical examination including neuroimaging, sequencing of candidate genes associated with DRS, and array comparative genomic hybridization (array CGH) were performed...
September 2014: Ophthalmic Genetics
https://read.qxmd.com/read/24790293/hormonal-and-genetical-assessment-of-a-japanese-girl-with-weaver-syndrome
#18
Yoko Miyoshi, Masako Taniike, Ikuko Mohri, Sotaro Mushiake, Shigeo Nakajima, Naomichi Matsumoto, Keiichi Ozono
We report a case of Japanese girl with a rare disorder of Weaver syndrome, which was characterized by overgrowth with advanced and disharmonic bone age, craniofacial abnormalities, developmental delay, metaphyseal flaring of the long bones and camptodactyly. The patient was delivered at 38 weeks of gestation with a length of 54.2 cm (+ 2.6 SD), a weight of 3805 g (+ 2.5 SD) and an occipitofrontal circumference (OFC) of 35.0 cm (+ 1.1 SD). She manifested hypertonia and flexion contractures in the first few years...
2004: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://read.qxmd.com/read/24607194/surgical-considerations-in-22q11-2-deletion-syndrome
#19
REVIEW
Richard E Kirschner, Adriane L Baylis
The 22q11.2 deletion syndrome (22q11DS) may be associated with several palatal abnormalities, including overt cleft palate, submucosal cleft palate, palatopharyngeal disproportion, and velar hypotonia. The syndrome is the genetic disorder most commonly associated with velopharyngeal dysfunction (VPD). The complex causes of VPD in affected patients combine with the complexity of associated medical disorders to render surgical management of the velopharynx particularly challenging. Optimization of surgical outcomes requires precision in diagnosis, surgical management, and multidisciplinary care...
April 2014: Clinics in Plastic Surgery
https://read.qxmd.com/read/24373587/powered-instrumentation-for-transnasal-endoscopic-partial-adenoidectomy-in-children-with-submucosal-cleft-palate
#20
Sherif M Askar, Amal S Quriba
OBJECTIVES: Partial adenoidectomy is the selective removal of the obstructing part of adenoid tissue, thus relieves obstruction symptoms and preserves the velopharyngeal valve action. Patients with palatal dysfunction are candidates for the technique. This study describes the use of microdebrider, transnasally (guided by the nasal endoscope) to perform partial adenoidectomy in patients with submucosal cleft palate, who presented with adenoidal hypertrophy and also it discusses its effects on nasal obstruction and speech...
February 2014: International Journal of Pediatric Otorhinolaryngology
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