Cleft Palate in Kabuki Syndrome: A Report of Six Cases

2006 ◽  
Vol 43 (6) ◽  
pp. 756-761 ◽  
Author(s):  
Takuya Iida ◽  
Susam Park ◽  
Kogo Kato ◽  
Ichiko Kitano
Keyword(s):  
Cleft Palate ◽  
Clinical Features ◽  
Congenital Anomalies ◽  
Kabuki Syndrome ◽  
Characteristic Appearance ◽  
Submucous Cleft Palate ◽  
Velopharyngeal Function

Kabuki syndrome is a syndrome of rare congenital anomalies that was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. Although cleft palate is a feature that is sometimes observed in patients with Kabuki syndrome, there are few clinical reports of cleft palate associated with Kabuki syndrome. This report presents six cases of Kabuki syndrome with cleft palate and reviews their clinical features. Our results suggest that (1) patients with cleft palate in Kabuki syndrome tend to fail in acquiring normal velopharyngeal function and (2) submucous cleft palate might be more common in patients with Kabuki syndrome than previously was reported.

The Correlation Between Consonant Articulation and Velopharyngeal Function in Patients With Unoperated Submucous Cleft Palate

2020 ◽  
Vol 31 (4) ◽  
pp. 1070-1073
Author(s):  
Bei Zhang ◽  
Chunli Guo ◽  
Heng Yin ◽  
Qian Zheng ◽  
Bing Shi ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Submucous Cleft Palate ◽  
Velopharyngeal Function

Cephalometric Analysis in Submucous Cleft Palate: Comparison of Cephalometric Data Obtained from Submucous Cleft Palate Patients with Velopharyngeal Competence and Incompetence

2002 ◽  
Vol 39 (1) ◽  
pp. 105-109 ◽  
Author(s):  
Susam Park ◽  
Makoto Omori ◽  
Kogo Kato ◽  
Naotugu Nitta ◽  
Ichiko Kitano ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Orthodontic Treatment ◽  
Strong Relationship ◽  
Prognostic Indicator ◽  
Cephalometric Analysis ◽  
Submucous Cleft Palate ◽  
Velopharyngeal Function ◽  
The Relationship

Objective The purpose of this study was to investigate the relationship between craniofacial and nasopharyngeal morphology and velopharyngeal function in submucous cleft palate. Design and Patients Fifty-two lateral cephalometric radiographs of 46 sub-mucous cleft palate (SMCP) patients with velopharyngeal competence (24 patients) and incompetence (22 patients) at 4 and 7 years of age were studied. The patients had not received any surgical or orthodontic treatment prior to cephalography being performed. Results Significant differences were found between cephalometric variables (N-Ba, N-S-Ba angle) in children with velopharyngeal competence and incompetence. However, the results of our study showed that cephalometric data alone are not useful for predicting velopharyngeal function and can not serve as an absolute prognostic indicator. Conclusion There are many factors that can influence velopharyngeal function in SMCP patients. Cephalometric data did not demonstrate a strong relationship to velopharyngeal function.

Kabuki Syndrome: Underdiagnosed Recognizable Pattern in Cleft Palate Patients

1995 ◽  
Vol 32 (1) ◽  
pp. 77-84 ◽  
Author(s):  
Leah W. Burke ◽  
Marilyn C. Jones
Keyword(s):  
Connective Tissue ◽  
Cleft Palate ◽  
Developmental Delay ◽  
Clinical Features ◽  
Japanese Population ◽  
Japanese Patients ◽  
Kabuki Syndrome ◽  
Musculoskeletal Problems ◽  
Musculoskeletal Abnormalities ◽  
Over Time

Eight cases of Kabuki syndrome in non-Japanese patients are presented. (Although the name Kabuki Make-up syndrome has been used to identify this condition, the authors recommend that the term “make-up” be deleted from the designation as it has caused problems with some of the families.) Clinical features include a characteristic facies, developmental delay, musculoskeletal abnormalities, and dermatoglyphic differences. The phenotype appears to evolve over time making the diagnosis difficult in infancy. The progressive changes in the facial characteristics as well as the musculoskeletal problems suggest an underlying defect of the connective tissue. Finally, the syndrome appears to be more common in the non-Japanese population than previously appreciated, particularly in the cleft palate population.

Instrumental Assessment in Cleft Palate Care

2013 ◽  
Vol 23 (2) ◽  
pp. 49-61 ◽  
Author(s):  
Jamie Perry ◽  
Graham Schenck
Keyword(s):  
Cleft Palate ◽  
New Developments ◽  
Perceptual Evaluation ◽  
Advantages And Disadvantages ◽  
Instrumental Assessment ◽  
Speech Language Pathologist ◽  
Hypernasal Speech ◽  
Perceptual Assessment ◽  
Velopharyngeal Function ◽  
And Function

Despite advances in surgical management, it is estimated that 20–30% of children with repaired cleft palate will continue to have hypernasal speech and require a second surgery to create normal velopharyngeal function (Bricknell, McFadden, & Curran, 2002; Härtel, Karsten, & Gundlach, 1994; McWilliams, 1990). A qualitative perceptual assessment by a speech-language pathologist is considered the most important step of the evaluation for children with resonance disorders (Peterson-Falzone, Hardin-Jones, & Karnell, 2010). Direct and indirect instrumental analyses should be used to confirm or validate the perceptual evaluation of an experienced speech-language pathologist (Paal, Reulbach, Strobel-Schwarthoff, Nkenke, & Schuster, 2005). The purpose of this article is to provide an overview of current instrumental assessment methods used in cleft palate care. Both direct and indirect instrumental procedures will be reviewed with descriptions of the advantages and disadvantages of each. Lastly, new developments for evaluating velopharyngeal structures and function will be provided.

scholarly journals The efficacy of transnasal palatal transillumination for the diagnosis of submucous cleft palate

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Yasir S. Jamal ◽  
Sabah S. Moshref ◽  
Abeer M. Baamir ◽  
Mazin O. Kurdi ◽  
Doaa Y. Jamal
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Diagnostic Techniques ◽  
Lateral Release ◽  
Feeding Difficulties ◽  
Presenting Symptoms ◽  
Submucous Cleft Palate ◽  
Cheap Method ◽  
Operative Findings ◽  
Simple Repair

Abstract Background Submucous cleft palate (SMCP) is a congenital abnormality with various clinical and anatomical features. Submucous cleft pathologies may be unrecognized during routine examinations. Current diagnostic techniques are constrained and unrevealing in presurgical patients. This prospective study aimed to evaluate transnasal palatal transillumination technique in diagnosis of SMCP at our institute hospital, during period from 2005-2020. Patients and methods Twenty-one cases with SMCP were recruited with age range from 2-60 months. Transnasal palatal transillumination with controllable light intensity endoscope used to evaluate SMCP and cases were photo and video recorded. Results In this study, 21 cases (13 males and 8 females) with SMCP were detected or confirmed by intranasal transnasal palatal transillumination. Frequency of SMCP patients at our institute was 3.39%. All patients presented with symptomatic complaints at diagnosis time, apart from 5 patients (23.8%) were diagnosed during cleft lip repair operations. Presenting symptoms were hypernasality (23.8%), delayed speech (23.8%), perforated palate with nasal escape of milk and food (14.3%), feeding difficulties (14.3%), and otitis media (4.8%). During intra-oral examination, all cases had a bifid uvula accompanied SMCP. Submucous cleft palate appeared as thin palate with central lucency. According to operative findings, operations done for repair were mostly two long palatal flaps (n = 13, 61.9%), von Langenbeck (n = 5, 23.8%), simple repair with lateral release incisions (n = 2, 9.6%), and simple repair without lateral release incision (n = 1, 4.8%). Conclusions Intraoperative assessment of submucous cleft palate with transnasal palatal transillumination is easy and cheap method to avoid missing cases of SMCP.

Perceptual Speech Outcomes After Early Primary Palatal Repair in Ugandan Patients With Cleft Palate

2020 ◽  
pp. 105566562098024
Author(s):  
Kim Bettens ◽  
Laura Bruneel ◽  
Cassandra Alighieri ◽  
Daniel Sseremba ◽  
Duncan Musasizib ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Speech Therapy ◽  
Cleft Lip And Palate ◽  
Control Group ◽  
English Speaking ◽  
And Gender ◽  
Early Primary ◽  
Velopharyngeal Function ◽  
Normal Speech

Objective: To provide speech outcomes of English-speaking Ugandan patients with a cleft palate with or without cleft lip (CP±L). Design: Prospective case–control study. Setting: Referral hospital for patients with cleft lip and palate in Uganda. Participants: Twenty-four English-speaking Ugandan children with a CP±L (15 boys, 9 girls, mean 8.4 years) who received palatal closure prior to 6 months of age and an age- and gender-matched control group of Ugandan children without cleft palate. Interventions: Comparison of speech outcomes of the patient and control group. Main Outcome Measures: Perceptual speech outcomes including articulation, resonance, speech understandability and acceptability, and velopharyngeal composite score (VPC-sum). Information regarding speech therapy, fistula rate, and secondary surgery. Results: Normal speech understandability was observed in 42% of the patients, and 38% were judged with normal speech acceptability. Only 16% showed compensatory articulation. Acceptable resonance was found in 71%, and 75% of the patients were judged perceptually to present with competent velopharyngeal function based on the VPC-sum. Additional speech intervention was recommended in 25% of the patients. Statistically significant differences for all these variables were still observed with the control children ( P < .05). Conclusions: Overall, acceptable speech outcomes were found after early primary palatal closure. Comparable or even better results were found in comparison with international benchmarks, especially regarding the presence of compensatory articulation. Whether this approach is transferable to Western countries is the subject for further research.

Dental anomalies frequency in submucous cleft palate versus complete cleft palate

2021 ◽  
Author(s):  
João Paulo Schwartz ◽  
Daniela Gamba Garib
Keyword(s):  
Cleft Palate ◽  
Permanent Teeth ◽  
Tooth Agenesis ◽  
Dental Anomalies ◽  
Supernumerary Teeth ◽  
Chi Square ◽  
Intergroup Comparison ◽  
Significant Difference ◽  
Submucous Cleft Palate ◽  
Isolated Cleft Palate

Summary Background/Objectives This retrospective study evaluated the prevalence of dental anomalies of number in different subphenotypes of isolated cleft palate. Materials/Methods The sample comprised 26 individuals with submucous cleft palate (group S) and 68 individuals with complete cleft palate (group C) aged between 9 and 12 years from a single centre. Panoramic radiographs were evaluated regarding the presence of dental anomalies of number in permanent teeth. Intergroup comparison was performed using chi-square tests (P &lt; 0.05). Results Tooth agenesis was found in 34.61 and 36.76 per cent of group S and group C, respectively. The most commonly missing teeth were the maxillary second premolar, maxillary lateral incisor, and mandibular second premolar. Supernumerary teeth were found in none and 1.47 per cent of the individuals with submucous and complete cleft palate, respectively. No statistically significant difference was found between groups for the frequency of tooth agenesis and supernumerary teeth. Limitations Only dental anomalies of number were evaluated. Conclusions/Implications Individuals with submucous and complete cleft palate showed similar prevalence for tooth agenesis and supernumerary teeth. Dental anomalies frequency seems not to be a discriminator for subphenotypes of cleft palate.

Phonological Profile of Patients With Velopharyngeal Dysfunction and Palatal Anomalies

2021 ◽  
pp. 1-15
Author(s):  
Ariela Nachmani ◽  
Muhamed Masalha ◽  
Firas Kassem
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Age Groups ◽  
Phonological Process ◽  
Phonological Processes ◽  
Process Error ◽  
Submucous Cleft Palate ◽  
Different Types

Purpose 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. Method 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. Results 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). Conclusions 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.

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