keyword
https://read.qxmd.com/read/23851744/alteration-of-maxillary-and-mandibular-growth-of-adult-patients-with-unoperated-isolated-cleft-palate
#21
COMPARATIVE STUDY
Yunqiang Yang, Yeke Wu, Yifei Gu, Qijian Yang, Bing Shi, Qian Zheng, Yan Wang
OBJECTIVE: The objective of this study was to investigate the effects of cleft palate itself on the growth of maxilla and mandible. PATIENTS AND METHODS: Fifty-two adult female patients with unoperated isolated cleft palate and 52 adult female individuals with normal occlusion were included in our study. Computer software was used for lateral cephalometry measurement. Manual measurement was performed for dental cast measurements, and sample t test analysis was applied to analyze the differences between the 2 groups using SPSS 17...
July 2013: Journal of Craniofacial Surgery
https://read.qxmd.com/read/23707152/a-25-year-review-of-cases-with-submucous-cleft-palate
#22
Tomito Oji, Yoshiaki Sakamoto, Hisao Ogata, Ikkei Tamada, Kazuo Kishi
OBJECTIVES: To evaluate the effect of diagnostic and operative time on velopharyngeal closure in submucosal cleft palate (SMCP). METHODS: SMCP patients treated at the Keio University School of Medicine from 1986 to 2011 were enrolled as subjects. Clinical data were obtained, including patient sex, age at diagnosis, and operative age, occasion of diagnosis, accompanying deformities, speech test results before and 6 months after palatoplasty, and pharyngeal flap usage after palatoplasty...
July 2013: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/23121717/a-candidate-gene-approach-to-identify-modifiers-of-the-palatal-phenotype-in-22q11-2-deletion-syndrome-patients
#23
COMPARATIVE STUDY
Josine C C Widdershoven, Mark Bowser, Molly B Sheridan, Donna M McDonald-McGinn, Elaine H Zackai, Cynthia B Solot, Richard E Kirschner, Frits A Beemer, Bernice E Morrow, Marcella Devoto, Beverly S Emanuel
OBJECTIVE: Palatal anomalies are one of the identifying features of 22q11.2 deletion syndrome (22q11.2DS) affecting about one third of patients. To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0. METHODS: Patients from Children's Hospital of Philadelphia, USA and Wilhelmina Children's Hospital Utrecht, The Netherlands were stratified based on palatal phenotype (overt cleft, submucosal cleft, bifid uvula)...
January 2013: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/22987620/haploinsufficiency-of-stk11-and-neighboring-genes-cause-a-contiguous-gene-syndrome-including-peutz-jeghers-phenotype
#24
Sarah Scollon, Kirsty McWalter, Keith Abe, Jeremy King, Kevin Kimata, Thomas P Slavin
We report on clinical and molecular findings of a 15-year-old female referred to our genetics clinic for a diagnostic evaluation due to mild developmental delay, submucosal cleft palate, and seizure disorder. Chromosomal microarray technology revealed a cancer predisposition due to a terminal deletion on chromosome 19p that includes the tumor suppressor gene STK11. In addition to abnormal lip pigmentation on exam, further diagnostic workup with upper and lower gastrointestinal screening confirmed polyps consistent with Peutz-Jeghers syndrome...
November 2012: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/22565874/alloderm-revision-for-failed-pharyngoplasty
#25
David A Kelly, Christina Plikatitis, David Blalock, Louis C Argenta, Lisa R David
Velopharyngeal insufficiency (VPI) occurs in more than 20% of patients with a cleft palate after primary palatoplasty. Surgical treatment focuses on pharyngoplasty to narrow the nasopharyngeal space and to decrease the distance needed for palatal closure. Persistent VPI after pharyngoplasty affects more than 20% of patients.From September 2007 to December 2009, 16 children (10 boys and 6 girls) with a mean age of 9.5 years (4-15 years) underwent surgical revision using an AlloDerm sling for persistent VPI after at least 1 previous failed pharyngoplasty...
May 2012: Journal of Craniofacial Surgery
https://read.qxmd.com/read/22404912/an-unusual-accessory-mandible-and-a-submucosal-cleft-palate-a-case-report-and-review-of-the-literature
#26
REVIEW
Ali Borzabadi-Farahani, John Gross, Pedro A Sanchez-Lara, Stephen L-K Yen
An accessory mandible is a rare congenital anomaly that requires multidisciplinary management. This case report describes a female patient with an unusual accessory mandible, a dysplastic overgrowth of bone, containing teeth that extended from the midsymphyseal region. A submucosal cleft palate and cleft of the lower lip were also present. Her treatment plan took a staged approach with initial surgical resection of the accessory bone and teeth. The second stage, still in the planning phase, will correct the secondary deformity of an anterior open bite and will restore the missing lower anterior teeth...
May 2013: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/22371266/tbx1-regulates-oral-epithelial-adhesion-and-palatal-development
#27
Noriko Funato, Masataka Nakamura, James A Richardson, Deepak Srivastava, Hiromi Yanagisawa
Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate. However, the etiology of these forms of cleft palate has not been well understood. T-box transcriptional factor (Tbx) family of transcriptional factors has distinct roles in a wide range of embryonic differentiation or response pathways...
June 1, 2012: Human Molecular Genetics
https://read.qxmd.com/read/22075323/a-case-of-an-extremely-large-accessory-bone-with-unusual-sutures-and-foramina-parietalia-permagna-in-multiple-premature-craniosynostoses
#28
Sarah E Hanninger, Anton H Schwabegger
BACKGROUND: Within the entity of craniofacial malformations premature craniosynostoses represent the majority of cases. They originate from disturbances in the ossification process, resulting in an osseous closure of cranial sutures ahead of time. Depending on severity and number of the affected sutures, a local or general growth inhibition of the skull follows. In the rare instance of accessory bones along these affected sutures, they may interfere with diagnostics and therapy. PATIENT: This clinical report describes the case of a seven-month-old male infant with multiple craniosynostoses, an extraordinary large accessory median calvarial bone, two foramina parietalia permagna and a submucosal cleft palate...
October 2012: Journal of Cranio-maxillo-facial Surgery
https://read.qxmd.com/read/20363509/cervical-vascular-and-upper-airway-asymmetry-in-velo-cardio-facial-syndrome-correlation-of-nasopharyngoscopy-with-mra
#29
Avi G Oppenheimer, Susan Fulmer, Keivan Shifteh, Ja-Kwei Chang, Allan Brook, Alan L Shanske, Robert J Shprintzen
PURPOSE: Velo-cardio-facial syndrome (VCFS), the most common genetic syndrome causing cleft palate, is associated with internal carotid and vertebral artery anomalies, as well as upper airway asymmetry. Medially displaced internal carotid arteries, often immediately submucosal, present a risk of vascular injury during pharyngeal flap surgery for velopharyngeal insufficiency (VPI). We evaluate the frequency and spectrum of cervical vascular anomalies in a large cohort of VCFS patients correlating MRA with nasopharyngolaryngoscopy in detecting at risk carotid arteries...
June 2010: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/20173721/oral-findings-in-midline-syndrome-a-case-report-and-literature-review
#30
REVIEW
Victòria Tallón-Walton, Pekka Nieminen, Sirpa Arte, Josep Maria Ustrell-Torrent, Patricia Carvalho-Lobato, Maria Cristina Manzanares-Céspedes
We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology...
July 2010: Medicina Oral, Patología Oral y Cirugía Bucal
https://read.qxmd.com/read/19740554/partial-adenoidectomy-by-suction-diathermy-in-children-with-cleft-palate-to-avoid-velopharyngeal-insufficiency
#31
Daniel J Tweedie, Christopher J Skilbeck, Michelle E Wyatt, Lesley A Cochrane
OBJECTIVES: Adenoidectomy is indicated for the relief of paediatric nasal obstruction, sleep-disordered breathing and otitis media with effusion (OME). Velopharyngeal insufficiency (VPI) is a rare complication. The main risk factor is the presence of pre-existing velopharyngeal closure-impaired mechanisms, including submucosal or overt cleft palate. Despite possible benefits, adenoidectomy is frequently withheld in such children to avoid VPI. This study aims to demonstrate the efficacy and safety of partial adenoidectomy using suction diathermy in children who previously underwent overt cleft palate repair during infancy, to allow selective resection of tissue and symptom resolution without producing VPI...
November 2009: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/18689349/variations-of-the-isolated-cleft-of-the-hard-palate
#32
Kurt-W Bütow, Frederik J Jacobs, Roger A Zwahlen
A retrospective study was undertaken of 3100 facial cleft cases in order to analyse and determine the incidence of the isolated cleft of the hard palate. This presented as a very rare occurrence in three different variations, each having specific clinical appearances. The literature search revealed three publications each describing a single isolated hard palate cleft. However, these publications described hard palate clefts witnessed with other additional submucosal clefts or due to infection of the hard palate...
April 2008: SADJ: Journal of the South African Dental Association
https://read.qxmd.com/read/18328045/solitary-median-maxillary-central-incisor-syndrome-occurring-together-with-oromandibular-limb-hypogenesis-syndrome-type-1-a-case-report-of-this-previously-unreported-combination-of-syndromes
#33
Jinda Lertsirivorakul, Roger K Hall
BACKGROUND: Solitary median maxillary central incisor syndrome is a unique developmental abnormality, involving the central incisor tooth germs, occurring with and without systemic involvement. This syndrome has been recorded in association with many other midline developmental anomalies and several known syndromes. Its presence, together with oromandibular-limb hypogenesis syndrome type 1, has not previously been reported. CASE REPORT: A 3-year-old girl was presented with early childhood caries and a solitary median maxillary central incisor...
July 2008: International Journal of Paediatric Dentistry
https://read.qxmd.com/read/17943262/-numeric-quantification-of-intelligibility-in-schoolchildren-with-isolated-and-combined-cleft-palate
#34
B Vogt, A Maier, A Batliner, E Nöth, E Nkenke, U Eysholdt, M Schuster
OBJECTIVE: Even after adequate surgical and nonsurgical treatment, combined or isolated clefts often cause functional disorders, such as speech disorders. Speech disorders vary widely in extent and can take the form, for example, of specific features of articulation, with altered nasal emission and shifted articulation, leading to reduced speech intelligibility. So far it has not been possible to describe the relationship between cleft type and intelligibility except subjective, categorical evaluation...
November 2007: HNO
https://read.qxmd.com/read/17049625/floating-the-uvula-an-intraoperative-method-for-detecting-bifidity
#35
Amar C Suryadevara, Sherard A Tatum
A bifid uvula, midline diastasis of the palatal muscles, and notching of the posterior hard palate have classically formed a triad diagnosing submucosal clefts. The uvula has thus served as a tool for clinicians to detect the earliest signs of clefting. In this case report, we discuss how mucosal lining may be held together by mucous viscosity, making it difficult to detect notching or a grossly bifid uvula. We demonstrate a simple intraoperative technique to easily overcome this force. This paper involves a case report of an 8-year-old female undergoing an adenotonsillectomy...
January 2007: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/16911833/endoscopic-adenoidectomy-in-children-with-submucosal-cleft-palate
#36
Yoram Stern, Karl Segal, Eitan Yaniv
OBJECTIVE: To determine the safety and effectiveness of endoscopic partial adenoidectomy for the treatment of nasal obstruction in children with submucosal cleft palate. METHODS: The medical files of children with symptoms of nasal obstruction and submucosal cleft palate who underwent partial transnasal endoscopic adenoidectomy from January 1993 to December 2003 were reviewed. Operative complications, relief of nasal obstruction, presence of postoperative velopharyngeal insufficiency were recorded...
November 2006: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/16780827/cell-autonomous-requirement-for-tgfbr2-in-the-disappearance-of-medial-edge-epithelium-during-palatal-fusion
#37
Xun Xu, Jun Han, Yoshihiro Ito, Pablo Bringas, Mark M Urata, Yang Chai
Palatal fusion is a complex, multi-step developmental process; the consequence of failure in this process is cleft palate, one of the most common birth defects in humans. Previous studies have shown that regression of the medial edge epithelium (MEE) upon palatal fusion is required for this process, and TGF-beta signaling plays an important role in regulating palatal fusion. However, the fate of the MEE and the mechanisms underlying its disappearance are still unclear. By using the Cre/lox system, we are able to label the MEE genetically and to ablate Tgfbr2 specifically in the palatal epithelial cells...
September 1, 2006: Developmental Biology
https://read.qxmd.com/read/16192885/congenital-lip-pits-and-van-der-woude-syndrome
#38
Mandana N Ziai, Aaron G Benson, Hamid R Djalilian
Van der Woude syndrome is an autosomal dominant disease characterized by lower lip pits with or without cleft lip and/or cleft palate. The lip pits commonly have salivary glands that drain into them, which leads to salivary flow from the lip pits. Lip pits may be associated with submucosal palatal cleft, velopharyngeal insufficiency, or genitourinary or cardiovascular anomalies. The pits are treated by surgical resection. The authors report a case of van der Woude syndrome with isolated lip pits and speech difficulties that had been unrecognized until the patient was 6 years old...
September 2005: Journal of Craniofacial Surgery
https://read.qxmd.com/read/16132309/chromosome-22q11-deletions-in-patients-with-conotruncal-heart-defects
#39
A Khositseth, C Tocharoentanaphol, P Khowsathit, N Ruangdaraganon
We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus arteriosus (TA; n = 4), subpulmonary ventricular septal defect (SPVSD; n = 3), and interrupted aortic arch (IAA; n = 1), were enrolled in this study and screened for 22q11 deletions by the fluorescence in situ hybridization technique...
September 2005: Pediatric Cardiology
https://read.qxmd.com/read/15748593/rapp-hodgkin-syndrome
#40
Gene Kim, Helen Shin
A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. The clinical presentation of ectodermal dysplasia with cleft palate was consistent with Rapp-Hodgkin syndrome, which is one of several allelic diseases associated with mutations in the TP63 gene. The clinical manifestations of Rapp-Hodgkin as well as other ectodermal dysplasias with clefting are discussed...
2004: Dermatology Online Journal
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