1/37. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.- - - - - - - - - - ranking = 1keywords = cleft palate, palate (Clic here for more details about this article) |
2/37. CleftNet (scotland): a network for the treatment of cleft palate speech using EPG.Electropalatography (EPG) has proven its effectiveness in changing abnormal articulatory placement in cleft palate speech but clinicians often do not have ready access to such equipment. In order to improve access to EPG therapy, a network has been established which electronically links cleft palate centres throughout scotland with EPG specialists based at Queen Margaret College (QMC), Edinburgh. The network was set up through a collaborative project entitled 'CleftNet scotland', funded by the Scottish Office Department of health. In this paper, the rationale and overarching aims of CleftNet scotland are described and the efficacy of this form of EPG therapy illustrated by descriptions of two cases.- - - - - - - - - - ranking = 4.723113302671keywords = cleft palate, palate (Clic here for more details about this article) |
3/37. When is a /k/ not a [k]? EPG as a diagnostic and therapeutic tool for abnormal velar stops.This case study describes a boy who at the age of eight years did not have consistent or contrastive use of velar stops in his spontaneous speech. The use of electropalatography (EPG) revealed abnormal tongue-palate contact for both velar and alveolar stops, all of which were perceived as normal, there was excess contact in the palatal region for all alveolars and velars in a word initial position and double velar/palatal articulation for velars in a word final position. Therapy using EPG for visual feedback was highly successful and post therapy data showed normal-looking EPG patterns for alveolar and velar stops. The assessment, diagnostic and therapeutic implications are discussed.- - - - - - - - - - ranking = 0.070938149851613keywords = palate (Clic here for more details about this article) |
4/37. Furlow palatoplasty to restore velopharyngeal competence following tonsillectomy avulsion of a pharyngeal flap.OBJECTIVE: We report the successful use of a Furlow palatoplasty to salvage velopharyngeal competence following iatrogenic avulsion of a pharyngeal flap that had been previously established to treat velopharyngeal insufficiency associated with a submucous cleft palate. INTERVENTION: A tonsillectomy, conducted by a surgeon unaffiliated with a cleft palate team, was used to remove enlarged tonsils that had developed after pharyngeal flap surgery and extended into the lateral ports causing nasal obstruction and hypernasality because of mechanical interference with port closure. A posttonsillectomy evaluation revealed avulsion of the pharyngeal flap, which was successfully treated using a Furlow palatoplasty. CONCLUSIONS: To our knowledge, this is the first report of iatrogenic avulsion of a pharyngeal flap caused by tonsillectomy. Based on a review of the literature and this case experience, we would conclude that tonsillectomy should not be regarded as a routine procedure in patients previously treated with a pharyngeal flap. If required, it should be performed by a skilled otolaryngologist, preferably one affiliated with a multidisciplinary cleft palate team who is familiar with pharyngoplasty surgery. Finally, our experience would suggest that the Furlow palatoplasty is sufficiently robust to be used as a secondary salvage procedure to restore velopharyngeal sufficiency following iatrogenic avulsion of a pharyngeal flap.- - - - - - - - - - ranking = 2.3615566513355keywords = cleft palate, palate (Clic here for more details about this article) |
5/37. magnetic resonance imaging in the evaluation of occult submucous cleft palate.OBJECTIVE: To explore the application of magnetic resonance imaging (MRI) in the evaluation of patients with occult submucous cleft palate and to use the MRI information obtained to aid in the treatment decision to perform surgery versus behavioral speech therapy. DESIGN: Prospective study with magnetic resonance (MR) images of subjects suspected of having occult submucous cleft palate. SETTING: Hospital and university-based. patients: Two girls who were 4 years old at the time of palatal surgery. INTERVENTION: Furlow double-opposing Z-plasty. MAIN OUTCOME MEASURES: MR images and clinical speech evaluations. RESULTS: MR images provided evidence of an interruption of levator veli palatini muscle tissue in the midline and a substantial attachment of levator muscle tissue to the posterior border of the hard palate. In addition, MR images for both subjects demonstrated remarkably similar bilateral encapsulating sheaths that contained nonmuscular tissue, as confirmed subsequently during surgery. The encapsulating sheaths interrupted the normal progression of the levator muscle sling across the midline. The MR images led to the decision to perform surgery instead of speech therapy. Hypernasality was markedly reduced in both subjects after surgery. CONCLUSIONS: MRI is an effective technique for diagnosing occult submucous cleft palate and may be an important aid in the treatment decision regarding surgery versus behavioral speech therapy for patients diagnosed with occult submucous cleft palate.- - - - - - - - - - ranking = 5.6521751528194keywords = cleft palate, palate (Clic here for more details about this article) |
6/37. Palatal lift prosthesis for palatopharyngeal closure in Wilson's disease.This is a report of our work on a female patient with Wilson's disease who was treated for speech improvement. A palatal lift prosthesis was constructed to displace the soft palate superiorly and posteriorly and partially restore the functional deficiencies of palatopharyngeal insufficiency. Cephalometric radiographs confirm the association between the displacement of the soft palate and speech improvement.- - - - - - - - - - ranking = 0.14187629970323keywords = palate (Clic here for more details about this article) |
7/37. De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia.The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a heterogenous group of clinical conditions and has been classified morphologically, although its aetiology remains unclear. We present an 18-year-old female with KFA, associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism. No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case. CONCLUSION: The current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia.- - - - - - - - - - ranking = 0.78718555044516keywords = cleft palate, palate (Clic here for more details about this article) |
8/37. Alternative impression technique for a speech-aid prosthesis.OBJECTIVE: Prosthetic treatment for speech disorders attributable to surgically acquired soft palate defects are introduced. CASE: A patient who underwent soft palate resection for cancer is presented. The resected portion of the soft palate was confined to the posterior segments. A prosthesis with a speech bulb was adapted to the patient. CONCLUSION: Excellent restoration of speech and improvement of velopharyngeal function was achieved following placement of the special prosthesis.- - - - - - - - - - ranking = 0.21281444955484keywords = palate (Clic here for more details about this article) |
9/37. Advances in EPG for treatment and research: an illustrative case study.Electropalatography (EPG), a technique which reveals tongue-palate contact patterns over time, is a highly effective tool for speech research. We report here on recent developments by Articulate Instruments Ltd. These include hardware for Windows-based computers, backwardly compatible (with reading EPG3) software systems for clinical intervention and laboratory-based analysis for EPG and acoustic data, and an enhanced clinical interface with client and file management tools. We focus here on a single case study of a child aged 10 /-years who had been diagnosed with an intractable speech disorder possibly resulting ultimately from a complete cleft of hard and soft palate. We illustrate how assessment, diagnosis and treatment of the intractable speech disorder are undertaken using this new generation of instrumental phonetic support. We also look forward to future developments in articulatory phonetics that will link EPG with ultrasound for research and clinical communities.- - - - - - - - - - ranking = 0.14187629970323keywords = palate (Clic here for more details about this article) |
10/37. The contribution of electromyography to the diagnostics of some rare palatal anomalies.The paper presents the electromyographic (EMG) findings of the soft palate in three patients: a patient with Mohr syndrome and cleft palate, a patient with palatal asymmetry and rhinolalia and a patient with vertical oro-ocular facial cleft with marked asymmetry of the cleft palate. In the first patient, electrical silence was registered in one half of the palate. In the second patient, moderate loss of active motor units was registered in the hypoplastic part of the palate. In the third patient, in spite of asymmetry, the EMG finding was normal on both sides of the palate.- - - - - - - - - - ranking = 1.8581237002968keywords = cleft palate, palate (Clic here for more details about this article) |
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