Adults with 22q11.2 deletion syndrome have a different velopharyngeal anatomy with predisposition to velopharyngeal insufficiency.

AIM: To find out if subjects with 22q11.2 deletion syndrome (DS) have a different velopharyngeal anatomy which could cause velopharyngeal insufficiency (VPI). METHODS: A prospective study of 16 subjects >16 years of age with 22q11.2 DS, without overt cleft palate and without previous VPI surgery, and 48 healthy controls >18 years of age were included in the study. Speech was recorded and scored blindly by two independent senior speech therapists. All 64 individuals had MRI scans, which were analyzed blindly by a consultant radiologist. RESULTS: Subjects with 22q11.2 DS had a mild degree of weak pressure consonants (mean score); borderline to mild degree of hypernasality and audible nasal emission (mean score). All controls had normal speech. When comparing subjects (22q11.2 DS) to controls, we found the subjects to have the following: A shorter distance between left and right points of origin of the levator veli palatini muscle (LVP) (p < 0.0001); a more obtuse angle of origin of the LVP (bilaterally) (p < 0.009); a thinner LVP bilaterally and in the midline (p < 0.0001); a shorter LVP bilaterally (p < 0.0001); a shorter velum (p = 0.007); a larger osseous pharyngeal depth:velar length ratio (p = 0.01); a more obtuse anterior cranial base angle (nasion to sella to basion) (p < 0.0001) and posterior cranial base angle (sella to basion to foramen magnum) (p < 0.0001); a wider velopharyngeal width (p = 0.002) and a larger pharyngeal airway volume (p = 0.0007). CONCLUSION: Compared with healthy controls, adults with 22q11.2 DS showed a different velopharyngeal anatomy, which will make these individuals more prone to VPI.

Incidência de fistula após palatoplastia à Von Langenbeck com veloplastia intravelar estendida / Incidence of cleft palate fistula after von Langenbeck palatoplasty with extended intravelar veloplasty

Introdução: A fissura labiopalatina é a deformidade craniofacial mais frequente e sua incidência é estimada em 1:600 nascidos vivos no Brasil. O objetivo desse estudo é avaliar a incidência de fístulas para os pacientes submetidos à palatoplastia com veloplastia intravelar estendida. Métodos: Trata-se de estudo descritivo retrospectivo com 25 pacientes que foram operados pelo mesmo cirurgião no período de setembro de 2011 a setembro de 2012. A técnica de Von Langenbeck, juntamente com a veloplastia intravelar estendida, foi realizada em todos os pacientes. Foram excluídos do estudo os pacientes com fístulas palatinas, portadores de síndromes ou outras malformações. A idade média da realização da palatoplastia foi de 30,6 meses, variando de 12 meses a 159 meses. Foram selecionados 19 pacientes: onze (58%) do gênero masculino e oito (42%) do gênero feminino. A fissura palatal isolada foi a mais comum, encontrada em nove (47%) pacientes. A fissura transforame esquerda estava presente em sete (37%) pacientes e três (16%) pacientes eram portadores de fissura transforame bilateral. Resultados: Somente dois (11%) pacientes evoluíram com fístula palatina até o acompanhamento pós-operatório de 6 meses. Conclusão: A técnica de Von Langenbeck associada à veloplastia estendida mostrou-se com baixa incidência de fístulas palatinas (11%) quando comparada ao índice encontrado na literatura mundial (7% a 42%).

Introduction: Cleft lip and palate is the most common craniofacial deformity, with an estimated incidence of 1 case per 600 live births in Brazil. The aim of this study was to determine the incidence of fistula among patients undergoing palatoplasty with extended intravelar veloplasty. Methods: This retrospective descriptive study evaluated 25 patients operated between September 2011 and September 2012 by the same surgeon. The von Langenbeck technique combined with extended intravelar veloplasty was performed in all patients. The study excluded patients with palatal fistulas, syndromes, or other malformations. The age at palatoplasty varied between 12 and 159 months, and the average age was 30.6 months. Nineteen patients were selected, comprising 11 (58%) male patients and 8 (42%) female patients. Isolated cleft palate was the most common deformity, found in 9 (47%) patients. Unilateral (left) trans-foramen cleft was present in 7 (37%) patients, and bilateral trans-foramen cleft was seen in 3 (16%) patients. Results: Only 2 (11%) patients had palatal fistula in a postoperative follow-up period of 6 months. Conclusion: The von Langenbeck technique associated with extended veloplasty resulted in a low incidence of cleft palate fistulas (11%) compared with the rate found in previous studies (7%-42%).

Evaluation of the levator veli palatini muscle thickness in patients with velocardiofacial syndrome using magnetic resonance imaging.

Velocardiofacial syndrome (VCFS) is associated with velopharyngeal insufficiency, which occurs in approximately 75% of VCFS patients. Surgical management of velopharyngeal insufficiency in VCFS patients is difficult with a high revision rate due to the anatomic and physiological abnormalities of the velopharynx. The aims of this study were to evaluate the thickness and symmetry of the levator veli palatini (LVP) muscle using magnetic resonance imaging (MRI), and to compare the findings in VCFS patients to those in patients with nonsyndromic submucous cleft palate. We conducted a prospective analysis of 17 VCFS patients (nine boys, eight girls; age range, 4-9 years) and nine patients with submucous cleft palate without VCFS (eight boys, one girl; age range, 4-13 years) who had undergone MRI between March 2009 and August 2013. The thickness of the LVP muscle was measured at six locations in both groups. The symmetry was determined by comparing the values between the average of the left three points and the right three points. The mean LVP muscle thickness was significantly thinner in VCFS patients (2.14 ± 0.73 mm) than in patients without VCFS (3.70 ± 1.08 mm) (p < 0.001). In addition, the difference between the left and right sides of muscle thickness in the VCFS group was larger than that in the nonsyndromic submucous cleft palate group (0.25 and 0.09 mm, respectively). The thinness and asymmetry of the LVP muscle should be considered when determining the surgical management of velopharyngeal insufficiency in VCFS patients.

Transillumination of the occult submucous cleft palate.

Occult 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. Despite this insufficient muscle coverage, occult submucous cleft palate by definition lacks clear external anatomic landmarks. This absence of anatomic signs makes 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 in the presurgical patient; however, a missed diagnosis of occult submucous cleft palate can result in velopharyngeal insufficiency and major functional impairment in patients after surgery on the oropharynx. By accurately and easily diagnosing occult submucous cleft palate, it is possible to defer or modify pharyngeal surgical intervention that may further impair velopharyngeal function in susceptible patients. In this report, we introduce transillumination of the soft palate using a transnasal or transoral flexible endoscope as an inexpensive and simple technique for identification of submucous cleft palate. The use of transillumination of an occult submucous cleft palate is illustrated in a patient case and is compared to other current diagnostic methodologies.

Clinical grading system for submucous cleft palate.

Submucous cleft palate is a structural abnormality of the palate. The clinical features vary, as does the functional impairment, which ranges from none to severe. Although there is a poor correlation between the presenting clinical signs and the severity of velopharyngeal insufficiency during speech, a clinical grading system could assist surgical management and allow more meaningful comparisons to be made between outcome studies. The grading system described is based on clinical examination alone and reflects the likely degree of structural abnormality of the musculature of the soft palate.

Submucous cleft palate: an often-missed diagnosis.

This study aimed to investigate the age at diagnosis, palatal characteristics, and symptoms of submucous cleft palate (SMCP) and to compare the speech outcomes between 3 operative techniques for primary repair of SMCP.It was a retrospective review of 92 patients diagnosed with SMCP between 1994 and 2008, where patients were treated with 1 of 3 surgical procedures: double opposing z-palatoplasty, radical intravelar veloplasty, or pharyngeal flap.The need for a second procedure was considered a primary outcome measure, with operative failure defined by the need for a secondary operation. Postoperative speech was evaluated perceptually using the Great Ormond Street Speech Assessment.We found that SMCP was diagnosed at a mean age of 3.6 years. At diagnosis, 8% were asymptomatic, 67% had abnormal speech, 49% had recurrent otitis media with effusions, and 47% had hearing loss. Ear, nose, and throat surgery was performed on 37% without the diagnosis of SMCP being made. Subjective impression of a short palate was a predictor for secondary surgery (P < 0.02). Age at repair did not affect velopharyngeal insufficiency outcome; however, repair after 18 months of age led to a higher likelihood of developing articulatory speech errors resulting in the need for more speech therapy.In conclusion, the triad of features of SMCP is well recognized, but our study reveals that a high percentage is seen by physicians who have failed to make the diagnosis despite signs and symptoms being evident. Surgical correction is successful regardless of technique and age, but earlier recognition to prevent speech impairment should be sought.

Síndrome de Eagle: relatos de caso

Introdução: O processo estilóide do osso temporal é uma projeção óssea que corresponde à origem dos músculos estilo-faríngeo, estilo-hiódeo e estiloglosso. A síndrome de Eagle se caracteriza pela presença de sintomas, como otalgia, disfagia, odinofagia e dor facial, associados ao aumento do processo estilóide maior que 30 mm. Objetivo: Apresentar três casos clínicos de pacientes com diagnóstico de síndrome de Eagle e discutir a apresentação clínica e o tratamento desta doença. Conclusão: O tratamento cirúrgico com ressecção de parte do processo estilóide está relacionado à remissão dos sintomas nos pacientes com diagnóstico de síndrome de Eagle. A abordagem a partir de cervicotomia alta determina boas condições de exposição do processo estilóide, com ressecção mais ampla e preservação de estruturas vasculonervosas.

Congenital fenestration of the palate: A case of embryologic syzygy.

Congenital fenestration of the secondary palate is the rarest type of facial cleft. Of the 26 putative cases in the literature, only 5 had confirmation of the cleft during the neonatal period. This report documents such a cleft in an infant and presents the likely pathogenesis.

Morphology of the auditory tube and palatal muscles in a case of bilateral cleft palate.

OBJECTIVE: There is an increased incidence of otitis media in children with cleft palate, which may be related to the pathology of the auditory tube and palatal muscles. In the present study, the head of a human on term born fetus with bilateral palatal cleft was serially sectioned and the anatomy of the auditory tube and palatal muscles were studied by computer-aided three-dimensional reconstruction. RESULTS: The results showed a nearly horizontal course of the auditory tube. The tensor veli palatini muscle had a bony attachment on either side. The levator veli palatini muscle also showed an abnormal course. CONCLUSIONS: This abnormal course may result in obstruction of the auditory tube during contraction. These pathological findings may explain the higher frequency of otitis media in children with cleft palate.

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.

Malformation of the vomer in submucous cleft palate.

BACKGROUND: Several criteria are described in the literature to diagnose a submucous cleft palate. Commonly the differences in the extent of the submucous cleft will not be as overt as in open clefts. Nevertheless, complete submucous cleft palate may cause imperfect palato-pharyngeal closure so that the affected person needs to undergo speech training and surgical treatment. PATIENTS: We investigated 30 patients who underwent palatal repair to correct this disorder. They were evaluated according to the Koch's documentation system. RESULTS: In all patients an additional malformation of the inner nose was found: The vomer was not fused with the palatal shelves. There were different degrees of severity of this vomerine malformation and they were not necessarily correlated with the extent of the palatal cleft. CONCLUSION: In our opinion, this malformation of the vomer should be seen as a typical symptom of classical submucous cleft palate. Discussion is needed on how the vomerine malformation should be incorporated into the surgical procedure. Since we know from septal surgery that a basal septal perforation will lead to disturbances of nasal breathing.

Musculature of the soft palate: clinico-anatomic correlations and therapeutic implications in the treatment of cleft palates.

OBJECTIVE: Hypoplasia of the maxilla, often described as a classic sequela to surgical repair of the cleft palate, has been rare in our experience. We believe that our surgical technique, which includes dividing the nasal mucosa and the abnormal muscular insertions at the posterior border of the hard palate, is an important factor in preventing this sequela. METHOD: We compared the anatomy of 12 normal palates in cadavers to the anatomy of cleft palates seen at operation and to the anatomy of one cleft palate in a fetus aged 34 weeks. RESULTS: In cleft palates, the muscular fibres have an abnormal sagittal orientation, inserting on the posterior border of the hard palate. CONCLUSION: The division of both the nasal mucosa and these abnormal muscular insertions at the posterior border of the hard palate enables the surgeon to eliminate the abnormal posterior pull of these fibers on the maxilla.

Patterns of abnormal myogenesis in human cleft palates.

To test the hypothesis that soft palate muscles are abnormal in cleft palate, we compared soft palate morphogenesis in fetuses with cleft palate (n = 4) to age-matched (n = 3) and nonmatched (n = 1) control specimens. The morphologic status of all soft palate and masticatory structures were classified into one of six stages based on the level of histogenesis. At 54 mm crown-rump length (CRL), the levator veli palatini (L), palatopharyngeus (PP), and palatoglossus (PG) in cleft subjects demonstrated mesenchymal condensation into myoblastic fields, lagging behind the control specimens (97 mm CRL), which displayed definitive fields of myoblasts and myotube formation. In the 175 mm and 225 mm cleft and the 170 mm and 192 mm control specimens, muscular morphology was similar and had reached its postnatal appearance for the tensor veli palatini (175 m only) and L, PP, PG (225 mm only). Muscle fiber directions were, however, disoriented and disorganized, especially close to the medial epithelial edge of the cleft. The levator veli palatini, could not be distinguished as a discrete muscle in the cleft specimens, and what we believed to be the PP and PG seemed "normal" at the level of light microscopy, but malpositioned in a superior direction. This preliminary study demonstrates for the first time that early myogenesis in cleft palates differs from normal.