Van der Woude Syndrome: Clinical Presentation in 64 Patients

2007 ◽  
Vol 44 (6) ◽  
pp. 649-652 ◽  
Author(s):  
Jung-Ju Huang ◽  
Jia-Woei Hou ◽  
Ying-Chien Tan ◽  
Kuo-Ting Chen ◽  
Lun-Jou Lo ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Clinical Presentation ◽  
Cleft Lip And Palate ◽  
Positive Family History ◽  
Van Der Woude Syndrome ◽  
Female Ratio ◽  
Clinical Presentations ◽  
Cleft Lip Palate ◽  
Isolated Cleft Palate ◽  
Male To Female

Objective: Van der Woude syndrome, characterized by lip pits and cleft lip/ palate, presents with variable expressions. This retrospective study was designed to obtain a better understanding of its clinical pattern in Taiwanese patients. Materials and Methods: Of 13,147 cleft patients treated at the Chang Gung Craniofacial Center from 1976 to 2004, there were 64 with Van der Woude syndrome. Clinical expressions and family histories were collected and analyzed. Results: The male to female ratio was 1:1. The majority had complete cleft types. Severe cleft was found among the patients, with 52% having bilateral cleft lip and palate, 31% having unilateral cleft lip and palate, and 17% having isolated cleft palate. A positive family history was found in 53.1% of the patients. The size, shape, location, and depth of the pits varied among patients. Conclusion: Clinical presentations did not always parallel those reported in the literatures. These differences warrant further investigation.

Pattern of Cleft Lip and Palate in Hospital-Based Population in Saudi Arabia: Retrospective Study

2008 ◽  
Vol 45 (6) ◽  
pp. 592-596 ◽  
Author(s):  
Aziza Aljohar ◽  
Kandasamy Ravichandran ◽  
Shazia Subhani
Keyword(s):  
Saudi Arabia ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tertiary Care ◽  
Positive Family History ◽  
Care Hospital ◽  
Associated Anomalies ◽  
Cleft Lip Palate ◽  
Isolated Cleft Palate

Objective: To report the patterns of cleft lip and/or cleft palate in Saudi Arabia from data collected at a tertiary care hospital. Design and Setting: King Faisal Specialist Hospital and Research Center, Riyadh. Patients: All the cleft lip and/or cleft palate patients registered in the Cleft Lip/Palate and Craniofacial Anomalies Registry from June 1999 to December 2005. Results: Retrospectively, 807 cases of cleft lip and/or palate were registered. There were 451 boys and 356 girls. Cleft lip and palate was more common (387) than isolated cleft palate (294) and isolated cleft lip (122). Boys predominated in cleft lip and palate and cleft lip; whereas, girls predominated in isolated cleft palate, with boy to girl ratios of 1.6:1, 1.2:1, and 0.9:1 for cleft lip and/or palate, isolated cleft lip, and isolated cleft palate, respectively. The Riyadh region had more cases (32.0%) than the Asir (15.6%) and Eastern (14.6%) regions. Parents of 439 individuals had consanguineous marriages. A positive family history of cleft was seen in 224 cases. Of 238 cases with associated anomalies, 91 had congenital heart disease. Of the children with isolated cleft palate, 40.5% had associated anomalies, whereas only 23.0% of the children with isolated cleft lip or cleft lip and palate had associated malformations. Conclusion: The pattern of cleft observed in this study does not differ significantly from those reported in the literature for Arab populations.

Prevalence and Clinical Case Series of Syndromic and Nonsyndromic Cleft Lip and Palate in a Saudi Arabian Neonatal Population

2020 ◽  
Vol 57 (11) ◽  
pp. 1259-1265
Author(s):  
Bandar Alyami ◽  
Mutaz Ali-Hassan ◽  
Ramat Braimah ◽  
Mansur Al-Mahri ◽  
Fahad Alyami ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Cleft Lip And Palate ◽  
Case Series ◽  
Maternity Hospital ◽  
Live Births ◽  
Clinical Presentations ◽  
Case Series Study ◽  
Isolated Cleft Palate

Objective: To report clinical case series of cleft lip with or without palate (CL/P) and to estimate the prevalence of infants with CL/P who were syndromic or nonsyndromic. Design: This is a clinical case series study of CL/P among live births in the maternity hospital. Setting: The study was carried out in Maternity and Children Hospital, Najran between January 2013 and December 2016. Materials and Methods: Sex and clinical presentation of CL/P were collected from the medical records of live births. Clinical presentations were identified by type of CL/P and stratified according to laterality of occurrence. The data were analyzed using (SPSS) program, version 20. Results were presented in simple descriptive statistics. Main Outcome: Prevalence of CL/P in the Najran region of Saudi Arabia was 0.65 per 1000 live births (95% CI: 0.650 [0.389-1.092]). Cleft lip and palate was the commonest clinical presentation. Result: Of 24 367 live birth, 16 were classified as having CL/P. The overall frequency of CL/P was 0.65/1000 live births (95% CI: 0.650 [0.389-1.092]). There were 10 males and 5 females. Infant sex cannot be established in 1 case. Two (12.5%) patients had cleft lip, 4 (25%) had isolated cleft palate, and 10 (62.5%) had combined CL/P. Nine (56.25%) neonates were cases of nonsyndromic CL/P, while 7 (43.75%) were cases of syndromic CL/P. Conclusions: Prevalence rate of 0.65 per 1000 live births over 4-year period was observed at (95% CI: 0.650 [0.389-1.092]). Cleft lip with or without palate was the commonest clinical presentation.

scholarly journals Incidence of Orofacial Clefts in Kumasi, Ghana

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Orofacial Clefts ◽  
Female Ratio ◽  
Live Births ◽  
Male Female Ratio ◽  
Cleft Lip Palate ◽  
History Of

Background. Cleft lip and cleft palate are among the most common orofacial congenital anomalies. This study is to establish Orofacial Clefts Database for Kumasi, Ghana, with a view to extend it to other cities in future to obtain a national orofacial anomaly database. Methods. A descriptive prospective survey was carried out at eleven selected health facilities in Kumasi. Results. The total number of live births recorded was 27,449. Orofacial anomalies recorded were 36, giving an incidence of 1.31/1000 live births or 1 in 763 live births. The mean maternal age of cleft lip/palate babies was 29.85 years (range 18–40 years). The male : female ratio for the orofacial anomalies babies was 1.3 : 1; the male : female ratio was 0.5 : 1 in the cleft lip group, 1.3 : 1 in the cleft lip and palate group, and 4 : 1 in the cleft palate group. The majority of clefts were unilateral (69.4%, n=25), with females (n=14) outnumbering males (n=11). A family history of cleft was recorded with five babies (13.9%). Associated congenital anomalies were recorded in seven (19.4%) cleft lips and/or palates. Conclusion. The incidence of 1 in 763 live births found in this study indicates that cleft lip/palate is a common congenital anomaly in Kumasi.

scholarly journals Does Early Repair of Cleft Lip Helps to Reduce the Cleft Alveolar and Palatal Gap in Unilateral Complete Cleft Lip - Palate Patients?

2014 ◽  
Vol 13 (3) ◽  
pp. 46-49
Author(s):  
Kazi Md Noor-ul Ferdous ◽  
Md Mafuzul Haq ◽  
S M Mashfiqur Rahman ◽  
Sabbir Karim ◽  
Md Mahabubul Alam ◽  
...  
Keyword(s):  
Family History ◽  
Postoperative Complications ◽  
Hard Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Positive Family History ◽  
Fistula Formation ◽  
Cleft Lip Palate ◽  
Cleft Lip Repair ◽  
Palate Patient

Backgroud: Timing of surgery in the patients with cleft lip palate is an important factor of prognosis. Delaying in surgical repair of cleft lip and palate patient may lead to difficulty. It may causes wide, extensive and difficult dissection. There are always chances of wound infection, wound dehiscence, complete wound disruption, fistula formation, even there is also chance of maxillary hypoplasia and failure to articulate lifelong. The purpose of this study to observe the effects of cleft lip repair in early age on cleft alveolar and cleft palatal gap thus helps during cleft hard palate repair in patients with unilateral complete cleft lip and palate (UCLP). Methods: A retrospective study was done from January 2008 to July 2013. Patients with unilateral complete cleft lip and palate included in this study, who under went cleft lip at first admission and then and after 3 months of cleft palate was repaired. Patients with previous cleft lip-palate surgery were excluded. The gaps of cleft alveolus and posterior border of the cleft hard palate were recorded during 1st and 2nd operations. Age, gender, side of the cleft, associated anomalies, family history of cleft, cleft alveolar and cleft palatal gap noted, postoperative complications were also recorded. All the data were Results: A total of 63 patients included in this study. Age ranged from 4 months to 8 years. 38 patients were male and 25 were female. Right side was involved in 20 and 43 patients involved in left side. Eight patients had positive family history. Nine had associated congenital anomalies. Cleft alveolar and palatal gap reduced more in the patients who were below the age of 18 months. Postoperative complications were mild respiratory distress, notching of vermilion border developed oronasal fistula.Conclusion: In unilateral complete cleft lip palate patient, early cleft lip repair results, reduction of gaps of alveolar cleft and that of hard palate remarkably, especially in the patients who came for cleft lip surgery in appropriate time.DOI: http://dx.doi.org/10.3329/cmoshmcj.v13i3.21023

scholarly journals Prevalence of nonsyndromic oral clefts in a reference hospital in the state of Minas Gerais, Brazil, between 2000-2005

2007 ◽  
Vol 21 (4) ◽  
pp. 314-317 ◽  
Author(s):  
Hercílio Martelli-Junior ◽  
Letícia Vieto Porto ◽  
Daniella Reis Barbosa Martelli ◽  
Paulo Rogério Ferreti Bonan ◽  
Amanda Beatriz Freitas ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Pediatric Patients ◽  
Cleft Lip And Palate ◽  
Minas Gerais ◽  
The State ◽  
Craniofacial Anomalies ◽  
Oral Clefts ◽  
Reference Hospital ◽  
Isolated Cleft Palate ◽  
Male To Female

The aim of the present study was to analyze the prevalence of nonsyndromic oral clefts in children receiving treatment at the Center for the Rehabilitation of Craniofacial Anomalies, José do Rosário Vellano University, Alfenas, MG, Brazil. All the data for the epidemiological study was retrieved from the files of 126 pediatric patients with oral clefts without any additional malformation, who came to the center for treatment between 2000 and 2005. A predominance of clefts was observed in Caucasians, and the ratio of male to female was 1.3. Males were 2.57 times more affected by cleft lip and palate (CLP) than females. CLP with a prevalence of 39.68% and isolated cleft lip (CL) with a prevalence of 38.09% were the most common anomalies, followed by isolated cleft palate (CP; 22.23%). Complete and unilateral CLP (26.19%) presented the highest prevalence, followed by incomplete and unilateral CL (23.81%). The present study presents the experience of a reference hospital in the state of Minas Gerais; however, the real prevalence of oral clefts in Brazil is still unknown. Our findings differ from those of a few previous Brazilian reports because they suggest similar prevalences of CLP and CL, and a higher prevalence of CLP in Caucasian males.

scholarly journals Alveolar cleft and maximum cleft width as predictors for difficult laryngoscopy and intubation in patients with unilateral complete cleft lip and palate

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Gamal A. Abdelhameed ◽  
Wael A. Ghanem ◽  
Simon H. Armanios ◽  
Tamer Nabil Abdelrahman
Keyword(s):  
Body Weight ◽  
Odds Ratio ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Difficult Laryngoscopy ◽  
Secondary Outcome ◽  
Pediatric Airway ◽  
Alveolar Cleft ◽  
Cleft Lip Palate ◽  
Width Measurements

Abstract Background Cleft lip and palate is one of the commonest congenital anomalies, which have an impact on feeding, speech, and dental development away from the significant psychosocial sequel. Early surgical repair aims to restore appearance and function, and the modern techniques can leave many defects undetectable. Therefore, the anesthetic challenge facing the pediatric airway with such abnormalities is still of a great impact. The aim of our study among 189 patients enrolled is to correlate alveolar gap and maximum cleft width measurements as predictors of difficult laryngoscopy and intubation in infants with unilateral complete cleft lip/palate aging from 1 to 6 months. As a secondary outcome, their weight is to be correlated too as another parameter. Results The alveolar gap and maximum cleft width are both of equal high predictive power (p value ≤ 0.001) with 100% sensitivity for both and specificity of 76.10% and 82.39% respectively, with a cut off value of ≤ 10 mm and 11 mm for these dimensions respectively, and odds ratio of incidence of difficult intubation is 4.18 and 5.68 respectively, while body weight ≤ 5.75 kg has an odds ratio of 2.32. Conclusion Alveolar cleft and maximum cleft width can be used as predictors for anticipation of difficult laryngoscopy and intubation infant patients with unilateral complete cleft lip and palate, while body weight ≤ 5.75 kg increases the risk more than twice.

Longitudinal Study on the Changes of Maxillary Arch Dimensions in Japanese Children with Cleft Lip and/or Palate: Infancy to 4 Years of Age

1995 ◽  
Vol 32 (2) ◽  
pp. 149-155 ◽  
Author(s):  
Yasuo Honda ◽  
Akira Suzuki ◽  
Masamichi Ohishi ◽  
Hideo Tashiro
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Lateral Displacement ◽  
Growth Patterns ◽  
Posterior Displacement ◽  
Arch Width ◽  
Dental Hospital ◽  
Growth Changes ◽  
Isolated Cleft Palate ◽  
Maxillary Arch

The focus of this study was an analysis of maxillary arch growth changes prior to the time of cheiloplasty up to 4 years of age. Serial dental casts were obtained and measured in 95 children with cleft lip and palate, or both: 7 unilateral cleft lip and alveolus (CLA), 52 unilateral cleft lip and palate (UCLP), 24 bilateral cleft lip and palate (BCLP), and 12 isolated cleft palate (CP). The children were treated at the Kyushu University Dental Hospital. The results are as follows: (1) Prior to cheiloplasty, the maxillary buccal segments in the subjects with cleft lip and palate showed lateral displacement. The premaxilla in BCLP subjects was protruded. (2) Cheiloplasty influenced maxillary anterior arch width, but not posterior width. The operation caused posterior displacement of the premaxilla in BCLP subjects. (3) Palatoplasty affected the growth of the maxillary arch in the transverse and anteroposterior dimensions. (4) A variety of growth patterns observed in the patients (e.g., increasing or decreasing of the maxillary arch dimensions) suggests that maxillary arch dimensions were affected not only by surgery, but also by other individual factors such as genetic facial pattern and severity of the cleft.

scholarly journals Mutations in P63 and IRF-6 Present with Overlapping Craniofacial Defects: A study from Lebanon

2019 ◽  
pp. 1-3
Author(s):  
Mazen Kurban ◽  
Edgar Jabbour ◽  
Lamiaa Hamie ◽  
Mazen Kurban ◽  
Pamela Kassabian
Keyword(s):  
Transcription Factors ◽  
Cleft Lip ◽  
Interferon Regulatory Factor ◽  
Craniofacial Development ◽  
Regulatory Factor ◽  
Van Der Woude Syndrome ◽  
Interferon Regulatory Factor 6 ◽  
Cleft Lip Palate ◽  
Exon 9 ◽  
Craniofacial Defects

Interferon Regulatory Factor 6 (IRF-6) and p63 are two vital transcription factors implicated in normal craniofacial development. In this report, we present a family with Van Der Woude Syndrome (VWS) with a mutation in exon 9 of IRF-6 gene and a phenotypically overlapping case of Rapp-Hodgkin Syndrome (RHS) resulting from a mutation in the p63 gene. Members from both families presented with congenital lip pits and cleft lip/palate. The RHS case had additional ectodermal features that underscore the upstream nature of p63 in the complex p63-IRF-6 interactive pathway.

scholarly journals Management of Adult Renal Tumours: Review of Nine (9) Years Experience

2020 ◽  
Vol 2 (5) ◽  
Author(s):  
Ngwobia Peter Agwu ◽  
Abdullahi Khalid ◽  
Uzodimma Ejike Onwuasoanya ◽  
Abdullahi Abdulwahab-Ahmed ◽  
Abubakar Sadiq Muhammad ◽  
...  
Keyword(s):  
Late Presentation ◽  
Molecular Therapy ◽  
Female Ratio ◽  
Review Period ◽  
Urological Malignancies ◽  
Clinical Presentations ◽  
Renal Tumours ◽  
Male To Female ◽  
Management Challenge

Background: Renal tumours appear to be relatively uncommon in our routine urological practice compared to other urological malignancies of bladder and prostate origins. Their presentations are often late despite increasing availability and affordability of routine imaging modalities for early detection. This therefore poses management challenge in our environment. This study aims to review our 9-year experience with the management of renal tumours at the Urology Unit of a tertiary health facility in North-western Nigeria Methodology: A retrospective review of 20 patients managed for renal tumour at our facility from September 2009 to August 2017. Data of all adult patients managed for renal tumours was retrieved and analyzed using SPSS 20.0 version for windows. The results were presented in percentages and mean ± SD as well as charts. Results: Twenty (20) patients were managed for renal tumours during the review period. The mean age of patients was 39.94 ± 12.19 years with median of 35 years and male to female ratio of 1:2. Nineteen (19) patient (95%) and 1(5%) had malignant and benign renal tumours respectively. Clinical presentations were flank mass seen in 18 patients (90%), flank pain 16 (80%), haematuria 10(50%), cough 2(10%), and pleural effusion 2(10%). Only clinical stages III and IV tumour were seen. 70% were clear cell variety while 5% was angiomyolipoma. Sixteen (80%) of patients had radical nephrectomy and two (10%) with inoperable tumour benefited from targeted molecular therapy preoperatively using Sorafenib. Conclusion: Late presentation of patients with renal tumours to our facility despite the availability of imaging facilities such as ultrasound scanning is still the norm. This makes surgery which offers best chance of survival and quality of life difficult and challenging. Targeted therapy using sorafenib, if available and affordable in our environment will be useful in management of patients with inoperable tumours.

scholarly journals How is the face formed and when it goes wrong: In relation to Cleft Lip/Palate

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Fozia Khan
Keyword(s):  
Cleft Lip ◽  
Normal Development ◽  
Cleft Lip And Palate ◽  
Complex Structure ◽  
First Trimester ◽  
Facial Defect ◽  
Facial Defects ◽  
The Face ◽  
Embryonic Life ◽  
Cleft Lip Palate

The normal development of the face relies upon the correct morphogenesis of structures in utero that usually occurs within the first trimester of embryonic life. The face is a very complex structure involving many genes and factors and with it being such a crucial part of life, both physically and aesthetically and therefore mentally, its important for everything to be just right. However, when the normal process doesn’t go to plan this results in dysmorphogenesis, which cleft lip and palate (CLP) is an example of as the lip/palate doesn’t fuse together and the infant is left with a gap. Although the exact cause of CLP is unknown, it is thought to be a mixture of genetics, environment and the teratogens the mothers are exposed to within the environment. This report will demonstrate the normal development of the face for the purpose of understanding how it goes wrong, resulting in CLP. Since there is still a lot to be understood about CLP it will also shed light on recent advances in relating SHH and certain genes as a possible cause for this dysmorphogenesis. The report will also briefly look at the relation of CLP with the genes associated with syndromic and non-syndromic diseases and the different types of CLP. There are many other facial defects that are a result of dysmorphogenesis, however as CLP is one of the most common yet poorly understood facial defect, it will be the main focus of this report.

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