Occult Submucous Cleft Palate Research Articles

Speech Outcomes and Velopharyngeal Function in Children Undergoing Submucous Cleft Palate Repair.

Describe and compare the results of speech and velopharyngeal function in children with classic and occult submucous cleft palate undergoing interdisciplinary treatment at the Gantz Foundation. The clinical history of all patients born between 2012 and 2017 with a diagnosis of classic or occult submucous cleft palate was retrospectively reviewed. Preoperative and postoperative medical, surgical, and speech and language history were collected. Twenty-eight cases diagnosed at the age of 44.8±23.9 months were included. Of these, 71.4% presented classic submucous cleft, and 28.6% occult. Before primary surgery, 7.1% had a diagnosis of the syndrome, and 21.4% were under study. A total of 39.3% had hearing difficulties and 21.4% used tympanic ventilation tubes. A total of 60.7% had language problems, 39.3% had compensatory articulation, 17.9% had absent hypernasality, and 21.4% had absent nasal emission. The team indicated primary palate surgery in 71.4%, of which 85% performed the surgery at the mean age of 61.7±24.7 months. The surgical technique was Furlow in 88.2% of the cases and intravelar veloplasty in the remaining 11.8%. Then, 3 cases underwent velopharyngeal insufficiency surgery; 2 of them eliminated hypernasality and reduced nasal emission. The age of diagnosis ( P =0.021) and the performance of velopharyngeal insufficiency surgery ( P =0029) of the occult submucous cleft palate group was significatively later than the classic cleft palate group. Language, hearing, compensatory articulation, hypernasality, and nasal emission problems were recorded. A high percentage required primary surgery. Of these, a low proportion also required a velopharyngeal insufficiency surgery, which improved the velopharyngeal function of the children but did not completely adapt it. In this regard, early diagnosis is essential, as well as an analysis of each center primary closure protocol.

Prognostic Factors for Speech Outcome among Patients with Submucous Cleft Palate Managed by Furlow Palatoplasty or Posterior Pharyngeal Flap.

Submucous cleft palate (SMCP) is a particular subtype of cleft deformity for which the optimal surgical timing and technique are still under debate. This study aimed to identify potential prognostic factors for the speech outcome of patients with SMCP and provide evidence for further management strategy optimization. The authors reviewed patients with nonsyndromic SMCP who received either Furlow palatoplasty (FP) or posterior pharyngeal flap (PPF) between 2008 and 2021 in a tertiary hospital-based cleft center. Both univariate and multivariate logistic regression models were used to screen preoperative variables, including cleft type (overt or occult), age at surgery, mobility of velum and pharyngeal wall, velopharyngeal closure ratio, and pattern. The receiver operating characteristic curve was used to determine the cutoff value of the significant predictors for subgroup comparison. A total of 131 patients were enrolled, with 92 receiving FP and 39 receiving PPF. Age at operation and cleft type were identified as having significant effects on FP outcome. Patients operated on before 9.5 years of age had a significantly higher velopharyngeal competence (VPC) rate than those operated on after that age. The speech outcome among patients with occult SMCP was significantly worse than that of patients with overt SMCP after FP treatment. No preoperative variable was found to be correlated with PPF outcome. PPF yielded a higher VPC rate than did FP among patients operated on after 9.5 years of age. The prognosis of patients with SMCP treated with FP is sensitive to age at surgery and cleft type. PPF may be considered for older patients in settings with limited access to multiple surgical procedures, especially when occult SMCP is diagnosed. Therapeutic, III.

Phonological Profile of Patients With Velopharyngeal Dysfunction and Palatal Anomalies.

This purpose of this study was to assess the frequency and types of phonological process errors in patients with velopharyngeal dysfunction (VPD) and the different types of palatal anomalies. A total of 808 nonsyndromic patients with VPD, who underwent follow-up at the Center for Cleft Palate and Craniofacial Anomalies, from 2000 to 2016 were included. Patients were stratified into four age groups and five subphenotypes of palatal anomalies: cleft lip and palate (CLP), cleft palate (CP), submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), and non-CP. Phonological processes were compared among groups. The 808 patients ranged in age from 3 to 29 years, and 439 (54.3%) were male. Overall, 262/808 patients (32.4%) had phonological process errors; 80 (59.7%) ages 3-4 years, 98 (40, 0%) ages 4.1-6 years, 48 (24.7%) 6.1-9 years, and 36 (15.3%) 9.1-29 years. Devoicing was the most prevalent phonological process error, found in 97 patients (12%), followed by cluster reduction in 82 (10.1%), fronting in 66 (8.2%), stopping in 45 (5.6%), final consonant deletion in 43 (5.3%), backing in 30 (3.7%), and syllable deletion and onset deletion in 13 (1.6%) patients. No differences were found in devoicing errors between palatal anomalies, even with increasing age. Phonological processes were found in 61/138 (44.20%) with CP, 46/118 (38.1%) with SMCP, 61/188 (32.4%) with non-CP, 70/268 (26.1%) with OSMCP, and 25/96 (26.2%) with CLP. Phonological process errors were most frequent with CP and least with OSMCP (p = .001). Phonological process errors in nonsyndromic VPD patients remained relatively high in all age groups up to adulthood, regardless of the type of palatal anomaly. Our findings regarding the phonological skills of patients with palatal anomalies can help clarify the etiology of speech and sound disorders in VPD patients, and contribute to general phonetic and phonological studies.

Is there a correlation between skull base flexure and palatal anomalies in patients with 22q11 deletion syndrome and velopharyngeal dysfunction?

The study aimed at assessing the relationship between skull base morphology, represented by skull base and nasopharyngeal angles, and palatal anatomy among patients with 22q11DS and velopharyngeal dysfunction.Retrospective analysis of patients with 22q11DS and velopharyngeal dysfunction. Age, sex, severity of velopharyngeal dysfunction, type of cleft (overt cleft palate, submucous cleft palate, occult submucous cleft palate, or no-CP, and cephalometric skull base angles were reviewed. Correlations between type of palatal anomaly and the angles were assessed.Among 132 patients, 71 were male (53.8%) and 61 were female (46.2%), ages 3.3–40.0 years (mean 8.3 ± 6.10). No difference in the mean cranial-base angle (P = 0.353) or in the distribution of the three types of cranial base angle sizes was found among the palatal anomaly groups (P = 0.137). More men had normal cranial base angles and more women had acute angulation (P = 0.008). A positive correlation was found between the skull base and nasopharyngeal angles (P = 0.001, r = −0.590).No direct correlation was found between cranial base morphology and palatal anomalies in patients with 22q11DS, and velopharyngeal dysfunction. This is probably because skull base and palate morphology contribute independently to velopharyngeal dysfunction.

Management of submucous cleft palate.

Submucous cleft palate (SMCP) represents an uncommon congenital palatal anomaly with a variable rate of velopharyngeal dysfunction or resulting speech abnormality. Classic teaching regarding management of this entity involves delayed repair until a perceptual speech assessment by a skilled speech-language pathologist can be performed, typically at age 3-5 years. An assessment of timing of intervention, surgical techniques, and patient comorbidities is critical for optimized outcomes. Early diagnosis and surgical intervention for SMCP are associated with improved speech outcomes. Expanding indications for surgery are being actively investigated. Timing of intervention and surgical technique may be influenced by a syndromic diagnosis, specifically 22q11.2 deletion syndrome. Diagnosis of classic SMCP and occult SMCP may be difficult based on provider experience. Variable surgical techniques may be used with good outcomes; patient comorbidities including syndromic diagnoses may determine best surgical technique. Expanding indications for surgery and timing of repair continue to evolve and warrant additional study.

Velopharyngeal Incompetence in Children With 22q11.2 Deletion Syndrome: Velar and Pharyngeal Dimensions.

The surgical management of velopharyngeal incompetence (VPI) in children with 22q11.2 deletion syndrome (22q11.2 DS) is challenging. There are numerous approaches and children often undergo more than one operation. Our aim was to develop a method using images from routine lateral videofluoroscopy to study the dimensions of the velopharynx in this cohort.We analyzed 22 pre-operative lateral videofluoroscopy recordings of children with 22q11.2 DS and VPI. Fourteen had a submucous cleft palate (SMCP) and 8 had no obvious palatal abnormality but who were subsequently labelled as having an occult submucous cleft palate (OSMCP). The control data were 10 historic records of children with cleft lip and an intact palate. The authors identified key points on radiographs of the velum at rest and when elevated to measure the total velar length, functional velar length and pharyngeal depth and compared them ratiometrically.The intra-observer reliability was > 0.9 whereas the inter-observer reliability was > 0.74. The velopharyngeal depth/total velar length was significantly greater in 22q11.2 DS than the control group P < 0.001. There was no difference between SMCP and OSMCP patients, P = 0.556. There was no difference in the functional velar length/total velar length between 22q11.2 DS and controls (P = 0.763).In this study, the authors demonstrate a reliable method to gain useful ratiometric measurements of the velopharynx. This may help with treatment planning. Children with 22q11.2 DS and VPI have a larger velopharyngeal depth/total velar length ratio that may explain some of the difficulty in management.

EP15.28: Two cases of occult submucous cleft palate and literature review

EP15.28: Two cases of occult submucous cleft palate and literature review

Abstract: Diagnosis, Treatment, and LONG-TERM Speech Outcomes of Occult Submucous Cleft Palate-Associated Velopharyngeal Insufficiency

INTRODUCTION: Overt submucous cleft palate (SMCP) is characterized by Calnan’s triad of bifid uvula, hard palate notch and zona pellucida. Because occult SMCP (OSMCP) lacks this triad, diagnosis is challenging and treatment (if indicated by the presence of velopharyngeal insufficiency [VPI]) is delayed. This study discusses diagnosis, treatment, and long-term outcomes of OSMCP. METHODS: A retrospective chart review was performed for all patients presenting to the Cleft-Craniofacial Center of Children’s Hospital of Pittsburgh who were surgically treated for SMCP between September 2004 to September 2015. Patients with any one of Calnan’s triad were excluded from analysis. The primary outcome was the requirement of secondary speech surgery due to persistent VPI. To evaluate long-term speech outcomes, postoperative follow-up was required to be >3 years for study inclusion. Speech was evaluated over time using Pittsburgh Weighted Speech Scores (PWSS). RESULTS: 317 SMCP patients underwent surgical treatment for VPI, 41 patients were diagnosed with OSMCP (mean age at surgery 6.7 years). Furlow palatoplasty was performed for all patients (mean follow-up: 5.5 years). Diagnostic techniques for OSMCP: 1) intraoral physical examination demonstrating vaulted V-shaped palatal elevation with gag or phonation in 87.8% (36/41) of patients; 2) MRI demonstrating sagittally oriented levator palatini muscles in 19.5% (8/41) of patients; and 3) videofluroscopy to evaluate palatal kinetics in 65.8% (27/41) of patients. Secondary speech surgery was performed on 39.0% (16/41) of patients. 55.6% of patients (5/9) with VCFS underwent secondary surgery (p>0.05). Patients undergoing secondary surgery had a significantly lower change in PWSS (postoperative PWSS minus preoperative PWSS) compared to those who did not (4.4 and 10.0; p=0.022). Using videofluroscopy, patients who required secondary speech surgery had lateral wall motion with 53.6% closure compared to 74.3% closure for those who did not (p=0.11). No oronasal fistulae developed. Posterior pharyngeal flap (PPF) was performed in 87.5% of patients as the secondary speech surgery. Two of these patients (14.2%) developed obstructive sleep apnea (OSA) and required PPF takedown. CONCLUSION: Patients with VPI and no overt signs of SMCP often have delayed diagnosis and incorrect clinical management. Accurate diagnosis of OSMCP is imperative to guide appropriate surgical treatment. Furlow palatoplasty is an important procedure for patients with OSMCP-associated VPI. This shows promising outcomes in patients with OSCMP and limits the risk of PPF-related OSA.

Diagnosing subtle palatal anomalies: Validation of video-analysis and assessment protocol for diagnosing occult submucous cleft palate

IntroductionSubmucous cleft palate (SMCP) classically involves bifid uvula, zona pellucida, and notched hard palate. However, patients may present with more subtle anatomic abnormalities. The ability to detect these abnormalities is important for surgeons managing velopharyngeal dysfunction (VPD) or considering adenoidectomy. ObjectivesValidate an assessment protocol for diagnosis of occult submucous cleft palate (OSMCP) and identify physical examination features present in patients with OSMCP in the relaxed and activated palate positions. MethodsStudy participants included patients referred to a pediatric VPD clinic with concern for hypernasality or SMCP. Using an appropriately encrypted iPod touch, transoral video was obtained for each patient with the palate in the relaxed and activated positions. The videos were reviewed by two otolaryngologists in normal speed and slow-motion, as needed, and a questionnaire was completed by each reviewer pertaining to the anatomy and function of the palate. Results47 patients, with an average age of 4.6 years, were included in the study over a one-year period. Four videos were unusable due to incomplete view of the palate. The most common palatal abnormality noted was OSMCP, diagnosed by each reviewer in 26/43 and 30/43 patients respectively. Using the assessment protocol, agreement on palatal diagnosis was 83.7% (kappa = 0.68), indicating substantial agreement, with the most prevalent anatomic features being vaulted palate elevation (96%) and visible notching of hard palate (75%). ConclusionThe diagnosis of subtle palatal anomalies is difficult and can be subjective. Using the proposed video-analysis method and assessment protocol may improve reliability of diagnosis of OSMCP.

Craniofacial structure variations in patients with palatal anomalies and velopharyngeal dysfunction.

Cephalometric evaluation of craniofacial and craniopharyngeal morphology is important for understanding the factors affecting velopharyngeal dysfunction (VPD) in patients with palatal anomalies. In this study, 366 patients with VPD were retrospectively stratified into cleft lip and palate (CLP), cleft palate (CP), submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), and non-CP groups. Lateral cephalometrics were used to assess craniofacial, craniopharyngeal, and velopharyngeal anatomy. The average craniofacial morphology in patients with VPD differed significantly according to the type of palatal anomaly. The non-CP and OSMCP groups differed from the CLP, CP, and SMCP groups in nasopharyngeal size and shape as depicted by a larger ANS-Ptm-Ve angle, a smaller S-N-Ba and NBa-PP angles, and a shorter linear value of S-Ar in the non-CP group. The CLP and CP groups had shorter ANS-Ptm, shorter Ptm-P, and smaller SNA and SNB angles. VPD patients with overt clefts have different skeletal and nasopharyngeal shapes compared to non-CP and OSMCP. Velopharyngeal function assessment should include the size and shape of the nasopharyngeal space in addition to the size and the activity of the velum and posterior and lateral walls of the nasopharynx. This should enable a more precise understanding of VPD pathology, and lead to improvements in the posterior pharyngeal flap technique in order to obtain better postoperative speech outcomes after surgical management of velopharyngeal dysfunction.

A Comparison of Speech Outcomes Using Radical Intravelar Veloplasty or Furlow Palatoplasty for the Treatment of Velopharyngeal Insufficiency Associated With Occult Submucous Cleft Palate

The safety, efficacy, and direct comparison of various surgical treatments for velopharyngeal insufficiency (VPI) associated with occult submucous cleft palate (OSMCP) are poorly characterized. The aim of this study was to report and analyze the safety and efficacy of Furlow palatoplasty (FP) versus radical intravelar veloplasty (IVV) for treatment of VPI associated with OSMCP. A retrospective review of one institution's experience treating VPI associated with OSMCP using IVV (group 1) or FP (group 2) during 24 months was performed. Statistical significance was determined by Wilcoxon matched-pair, Independent-Samples Mann-Whitney U, and analysis of variance (SPSS 20.0.0). In group 1 (IVV), 18 patients were identified from August 2010 to 2011 (12 male and 6 female patients; average age, 5.39 years). Seven patients were syndromic and 11 were nonsyndromic. In group 2 (FP), 17 patients were identified from August 2009 to 2011 (8 male and 9 female patients; average age, 8.37 years). Three patients were syndromic and 14 patients were nonsyndromic. There was statistical significance between the average pretreatment Pittsburgh Weighted Speech Score (PWSS) of the 2 groups (group 1 and 2 averages 19.06 and 11.05, respectively, P=0.002), but there was no statistical significance postoperatively (group 1 and 2 averages 4.50 and 4.69, respectively, P=0.405). One patient from each group required secondary speech surgery. Average operative time was greater for FP (140 minutes; range, 93-177 minutes) compared to IVV (95 minutes; range, 58-135 minutes), P<0.001. Average hospital stay was 3.9 days for IVV (range, 2-9 days) and 3.2 days for FP (range, 2-6 days), with no significant difference (P=0.116). There were no postsurgical wound infections, oral-nasal fistulas, postoperative bleeding complications, or mortalities. Nonsyndromic patients with hypernasal speech are treated effectively and safely with either IVV or FP. Intravelar veloplasty trended toward lower speech scores than FP (76% IVV, 58% FP PWSS absolute reduction). Syndromic patients with OSMCP may be more effectively treated with FP (72% IVV vs 79% FP PWSS absolute reduction). Intravelar veloplasty is associated with shorter operative times. Both techniques are associated with low morbidity, improved speech scores, and low reoperative rates.

Transillumination of the Occult Submucous Cleft Palate- Shining Light on a Diagnostic Technique

PURPOSE: Submucous cleft palate is a congenital deformity characterized by deficient union of the muscles that normally cross the velum and aid in elevation of the soft palate. Unlike overt submucous cleft palate, occult submucous cleft palate lacks clear external anatomic landmarks while still exhibiting insufficient median muscle interdigitation and abnormal function (Figure 1).Figure 1: Musculature of the normal velum and the occult submucous cleft palate.This absence of anatomic markers makes the diagnosis of occult submucous cleft less obvious, more dependent on ancillary tests, and potentially missed entirely. Current diagnostic methodologies are limited and often are unrevealing, however a missed diagnosis of occult submucous cleft palate can result in velopharyngeal insufficiency (VPI) and major functional impairment in patients following surgery on the oropharynx. By accurately and easily identifying occult submucous cleft palate, it is possible to defer or modify pharyngeal surgical intervention that may further impair velopharyngeal function in susceptible patients. METHODS AND MATERIALS: In this report, we introduce transillumination of the soft palate as a simple technique for submucous cleft palate identification, illustrate its use in the pre-operative patient work-up in comparison to other diagnostic methods, and describe its utility in a patient case. As part of assessing patients undergoing oropharyngeal surgery, a flexible fiberoptic nasopharyngoscope is routinely used to examine the velum, oropharynx and hypopharynx. We propose that the same scope be used to improve diagnosis of occult submucous cleft palate through transillumination. Following introduction of the scope through the nose or mouth, the lighted distal end of the scope should be directed anteriorly as to provide a backlight for the soft palate (Figure 2).Figure 2: Transillumination of a patient with submucous cleft palate. Note the central translucency and incongruity of velopharyngeal musculature.CONCLUSIONS: Occult submucous cleft palate is a frequently missed diagnosis that is often not recognized until a patient develops symptoms of VPI. As illustrated in our patient, the appearance of VPI symptoms following routine surgery can be debilitating for the patient and defeating for the surgeon in cases of missed occult submucous cleft. In patients undergoing oropharyngeal surgery, transillumination of the palate is an inexpensive, quick, and easily incorporated technique that can screen for undiagnosed occult submucous cleft palate and decrease the incidence of iatrogenic VPI post-operatively.

The Prevalence of Platybasia in Patients with Velopharyngeal Incompetence

Objectives : To estimate the prevalence of platybasia in patients with velopharyngeal incompetence (VPI) and its relation with palatal anomalies and syndromes. Design and Settings : Retrospective case analysis. Setting : A university-affiliated hospital. Patients : The VPI patients (n = 366) included five groups with either cleft lip and palate (CLP), cleft palate (CP) only, submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), or non-CP. The control group (n = 126) comprised healthy, normal-speech individuals. Outcome Measures : The cranial-base angle was measured by lateral cephalometric radiography. The prevalence of platybasia (defined as cranial base angle ≥ 137°) was estimated and the patient's syndromes were recorded. Results : The prevalence of platybasia was significantly higher in the VPI group (28.7%) than in the normal controls (2.4%) (P < .001). A significant difference (P < .01) was found in the prevalence of platybasia among the five VPI groups: 16.7%, 20.3%, 28.8%, 33.7%, and 40.3% for CLP, CP only, SMCP, OSMCP, and non-CP, respectively. No significant difference was found between the cranial-base angle of VPI patients and of controls and between the cranial-base angle of the five VPI groups. The VPI nonplatybasic patients had a significantly smaller cranial-base angle than normal controls (P < .01). Platybasia was the highest among patients with velocardiofacial syndrome (50%), followed by those with Pierre Robin syndrome (27.3%). Conclusions : Platybasia, which may cause enlargement of the nasopharyngeal space and difficulties in achieving velopharyngeal closure, can be found in high numbers of VPI patients with or without CP. This supports the belief that velopharyngeal anomaly may be part of a more complex craniofacial anomaly influenced by the cranial-base flexure.

Velopharyngoplasty in patients with 22q11.2 microdeletion syndrome: outcomes following the Newcastle protocol

Patients with 22q11.2 microdeletion commonly manifest velopharyngeal incompetence (VPI) even without any overt anomaly. The aim of this study was to assess the outcomes of speech surgery in such patients. Twenty consecutive patients (11 girls, nine boys) with 22q11.2 microdeletion underwent surgery for symptomatic VPI in a single-site, tertiary referral cleft unit (Royal Victoria Infirmary, Newcastle-upon-Tyne, UK). Thirteen patients had non-cleft velopharyngeal incompetence (NCVPI), and seven patients had occult sub-mucous cleft palate (SMCP). Patients with cleft palate and/or cleft lip or overt SMCP were excluded. Intraoral examination, lateral videofluoroscopy and intra-operative evaluation were used to assess velar muscle positioning. Using a consistent protocol, nine patients underwent simultaneous intravelar veloplasty (IVVP) and Hynes pharyngoplasty, eight patients underwent pharyngoplasty and three patients underwent IVVP between October 2004 and July 2009. Hypernasality, nasal emission and turbulence were assessed using the Great Ormond Street Speech Assessment protocol. Significant improvement in hypernasality scores was observed in all patients with 22q11.2 undergoing IVVP, pharyngoplasty or combined procedures (p = 0.001). In the NCVPI group, there was a strongly significant improvement in hypernasality scores post-operatively (p = 0.0002). In the occult SMCP group, there was a moderately significant improvement in hypernasality scores post-operatively (p = 0.02). Nasal airflow problems showed a trend to improvement, although did not reach statistical significance. Our protocol, utilising single-stage IVVP, Hynes pharyngoplasty or contemporaneous combination of procedures according to assessment at lateral videofluoroscopy, provides safe, effective and efficient treatment of VPI in VCFS patients with NCVPI or SMCP. Level of Evidence: Level IV, therapeutic study.

Superiorly Based Pharyngeal Flap for Treatment of Velopharyngeal Insufficiency in Patients With 22q11.2 Deletion Syndrome

There are no previous blinded studies for comparison of preoperative versus postoperative perceptual speech assessments when using a pharyngeal flap for treating velopharyngeal insufficiency (VPI) in patients diagnosed with 22q11.2 deletion syndrome. The aim of the study was to evaluate the effect of superiorly based pharyngeal flap surgery on speech in these patients using blinded judgments of experienced speech therapists. A retrospective study of 12 consecutive patients who had undergone pharyngeal flap surgery for treatment of VPI between 2002 and 2009 was conducted. Seven girls and 5 boys between 4 and 15 (median, 6) years old at the time of surgery were included in the study. Six patients were born with a submucous cleft palate (including 2 occult), and 1 patient, with an overt cleft palate. The remaining 5 patients had no signs of a palatal pathology. All palatal clefts had been repaired before pharyngeal flap surgery except in 2 patients with occult submucous cleft palate. Preoperative and postoperative audio recordings were blinded for scoring independently by 3 senior speech therapists. There was a significant improvement in hypernasality (P = 0.002), audible nasal emission (P = 0.033), weak pressure consonants (P = 0.008), and speech intelligibility (P = 0.021) after pharyngeal flap surgery. Hyponasality did not develop significantly with surgery. One patient was diagnosed with obstructive sleep apnea. Superiorly based pharyngeal flap resulted in a significant speech improvement in 12 consecutive patients with 22q11.2 deletion syndrome having VPI.

Potential for ultrasound in occult submucous cleft palate?

Very limited research has been done on the application of ultrasound to evaluate the palate postnatally. However, technological advancement of endoscopic US technology has made it integral during the assessment of loco-regional cancers of the gastrointestinal tract. Endoscopic US could be used to visualise and evaluate the musculature of the soft palate to identify submucous cleft palate. Indeed, the MTurbo® US system (Sonosite Inc., Bothell, WA, USA) has been used to evaluate the palate of three children with submucous cleft palate, thus identifying the absence of the central uvularis muscle and discontinuation of the levator sling in each of the submucous cleft palate cases, findings that were confirmed during palatoplasty [5]. Calnan’s triad is more than half a century old and provides a sensitivity of only 50%, yet it remains the mainstay of submucous cleft palate diagnosis. Research into using US to identify children at risk of submucous cleft palate could make detection of occult submucous cleft palate possible earlier. The question of whether endoscopic US could succeed in this task is one that should be explored.

Ultrasound Imaging to Identify Occult Submucous Cleft Palate

Objective: 1) Determine the feasibility of transoral ultrasound imaging in evaluating palatal anatomy using a human cadaver model. 2) Describe ultrasound findings in patients with a submucous cleft palate. Method: Ultrasound imaging of the soft palate in twenty fresh human cadaver specimens was performed using the Sono Site M Turbo system. In two specimens, the soft palate was imaged ex vivo to better evaluate the anatomy. Ultrasound imaging was then performed in three living patients with a submucous cleft palate. Results: The uvularis and levator sling were identified by ultrasound in each cadaver specimen. In each of the three patients with a submucous cleft palate, absence of the central uvularis muscle and discontinuity of the levator sling was seen on ultrasound imaging. The abnormal anatomy was confirmed after surgical exploration during the palatoplasty. Conclusion: Ultrasound imaging of normal velopharyngeal muscle is possible in human cadaver specimens. These results suggest that ultrasound imaging has potential in identifying patients with an occult submucous cleft palate. Ultrasound could help determine the appropriate surgery when formulating treatment for patients with velopharyngeal insufficiency without an obvious cleft palate.

Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: A phenotype correlation study

Objective Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated in a large cohort of human subjects with VCFS. Methods This study is a retrospective chart review including 316 Caucasian non-Hispanic subjects with FISH or CGH microarray confirmed chromosome 22q11.2 deletions. All subjects were evaluated by the interdisciplinary team at the Velo-Cardio-Facial Syndrome International Center at Upstate Medical University, Syracuse, NY. Each combination of congenital heart disease, cleft palates, and retrognathia was analyzed by Chi square or Fisher exact test. Results For all categories of congenital heart disease and cleft palate or retrognathia no significant associations were found, with the exception of submucous cleft palate and retrognathia (nominal p = 0.0325) and occult submucous cleft palate and retrognathia (nominal p = 0.000013). Conclusions Congenital heart disease and cleft palate do not appear to be correlated in human subjects with VCFS despite earlier suggestions from animal models. Possible explanations include modification of the effect of TBX1 by genes outside of the 22q11.2 region that may further influence the formation of the palate or heart, or the presence of epigenetic factors that may effect genes within the deleted region, modifying genes elsewhere, or polymorphisms on the normal copy of chromosome 22. Lastly, it is possible that TBX1 plays a role in palate formation in some species, but not in humans. In VCFS, retrognathia is caused by an obtuse angulation of the skull base. It is unknown if the correlation between retrognathia and cleft palate in VCFS indicates a developmental sequence related to skull morphology, or direct gene effects of both anomalies. Much work remains to be done to fully understand the complex relationships between phenotypic characteristics in VCFS.

The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome

To report our experience with cephalometry in evaluating velopharyngeal dysfunction (VPD) in velocardiofacial syndrome (VCFS) and its utility in assessing the role of cervical spine abnormalities in VPD, prior to surgical correction of VPD. Clinical charts and cephalometric radiographs done prior to surgery for VPD were retrospectively analyzed to ascertain velopharyngeal measurements and cervical spine abnormalities. Twenty-six patients (age: 6-23 years) with molecularly confirmed VCFS. Wake Forest University Health Sciences (1997-2005). Cranial base angle, nasopharyngeal depth, velum length, and Need ratio at rest, velar dimple location, and velopharyngeal length during phonation; information on presence/absence of submucous cleft palate and cervical spine abnormalities were also obtained. The relationship between C1 anterior arch abnormalities and Need ratio was examined. Seventy-three percent of the VCFS patients had excessive nasopharyngeal depth, 80% had an abnormal Need ratio, 50% had a short velum, 81% had a submucous or occult submucous cleft palate, 90.5% had a cervical spine abnormality (C1 anterior arch abnormalities in 38%) and 11.5% had platybasia. There was a significant difference in the Need ratio between patients with and without C1 anterior arch abnormalities. Cephalometry can be used to delineate factors such as C1 vertebral abnormalities, excessive pharyngeal depth, and short velum that contribute to VPD in VCFS. This would help otolaryngologists better understand the anatomy prior to surgical treatment of VPD. This is the first study to highlight the frequent occurrence of C1 anterior arch abnormalities in VCFS.

A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia

Background:Mutations in the T-box transcription factor gene TBX22 are found in patients with X-linked cleft palate and ankyloglossia (CPX), and are reported in approximately 5% of all non-syndromic cleft palate...