Complex Segregation Analysis in a Sample of Consecutive Newborns with Cleft Lip with or without Cleft Palate in Italy

1995 ◽  
Vol 45 (3) ◽  
pp. 157-164 ◽  
Author(s):  
Maurizio Clementi ◽  
Romano Tenconi ◽  
Andrew Collins ◽  
Elisa Calzolari ◽  
Mario Milan
Keyword(s):  
Cleft Palate ◽  
Segregation Analysis ◽  
Cleft Lip ◽  
Complex Segregation Analysis

scholarly journals Complex segregation analysis of nonsyndromic cleft lip/palate in a Chilean population

1998 ◽  
Vol 21 (1) ◽  
pp. 139-144 ◽  
Author(s):  
Rafael Blanco ◽  
Mauricio Arcos-Burgos ◽  
Mónica Paredes ◽  
Hernán Palomino ◽  
Lilian Jara ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Cleft Lip ◽  
Complex Segregation Analysis ◽  
Cleft Lip Palate ◽  
Chilean Population

scholarly journals Complex segregation analysis of 1,792 cleft lip and palate families in South America: 1967-1997

2003 ◽  
Vol 17 (2) ◽  
pp. 161-165 ◽  
Author(s):  
Alexandre Rezende Vieira ◽  
Paul Anthony Romitti ◽  
Iêda Maria Orioli ◽  
Eduardo Enrique Castilla
Keyword(s):  
Segregation Analysis ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Disease Risk ◽  
Familial Aggregation ◽  
South American ◽  
Susceptibility Loci ◽  
Complex Segregation Analysis ◽  
Best Fitting ◽  
Fitting Model

Although several studies have demonstrated familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL/P), its model of inheritance remains uncertain. We report the results of complex segregation analysis performed in South American families with a newborn affected with CL/P. Families of 1,792 consecutive newborns affected with CL/P and registered during the period 1967 to 1997 were studied. A model that did not include a major locus was the best-fitting model for CL/P families. This result is in agreement with previous studies which showed a significant association of several putative susceptibility loci and CL/P, indicating that the genes involved in CL/P are likely to have only a very modest impact on disease risk.

Australian Orthodontists Utilization and Attitude Toward a Government Funded Cleft Scheme

2021 ◽  
pp. 105566562198912
Author(s):  
Morgan Wishney ◽  
Aziz Sahu-Khan ◽  
Peter Petocz ◽  
M. Ali Darendeliler ◽  
Alexandra K. Papadopoulou
Keyword(s):  
Cleft Palate ◽  
Online Survey ◽  
Cleft Lip ◽  
Training Programs ◽  
Capital City ◽  
Australian Society ◽  
Capital Cities ◽  
The Past ◽  
Orthodontic Training ◽  
University Training

Objectives: To (1) survey Australian orthodontists about their involvement with a government-funded scheme for patients with clefts, the Medicare Cleft Lip and Cleft Palate Scheme (MCLCPS) and (2) investigate their attitude toward treating patients with clefts and their training in this respect. Design: A 13-question online survey was distributed to members of the Australian Society of Orthodontists. The survey gathered information regarding respondent demographics, the number of MCLCPS-eligible patients seen in the past 12 months and usual billing practices. Results: A total of 96 complete responses were obtained. About 70% of respondents had treated MCLCPS-eligible patients in the past 12 months and 55% saw between 2 and 5 patients during this time. The likelihood of treating patients with clefts increased by a factor of 4.8 (95% CI: 1.2-18.9) if practicing outside of a capital city and 1.5 times for each decade increase in orthodontist’s age (95% CI: 1.0-2.2). The MCLCPS was utilized by 81% of orthodontists with 26% of these respondents accepting rebate only. Most orthodontists felt their university training could have better prepared them to treat patients with clefts. A minority of orthodontists felt that a rebate increase would make them more likely to treat these patients. Conclusions: Australian orthodontists who treat patients with clefts tend to be older and work outside of capital cities. The decision to treat these patients tends to not be financially motived. Specialty orthodontic training programs could improve the preparedness of their graduates to treat patients with clefts.

Prevalence of Reading Difficulties in 9- to 10-Year Old Children in Sweden Born With Cleft Palate

2021 ◽  
pp. 105566562110132
Author(s):  
Justin Parry Weinfeld ◽  
Jakob Åsberg Johnels ◽  
Christina Persson
Keyword(s):  
General Population ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Reading Difficulties ◽  
Learning Problems ◽  
Study Group ◽  
Cross Sectional ◽  
Parental Questionnaire ◽  
Background Data ◽  
Cross Sectional Design

Objective: To investigate the prevalence of reading difficulties in children born with cleft palate at ages 9 and 10 in Sweden. Design: Using a cross-sectional design, a parental questionnaire assessing dyslexia-like reading difficulties (Short Dyslexia Scale, SDS) was administered together with separate questions regarding background data. Participants: Families with a child born with overt cleft palate with or without cleft lip in 4 regions of Sweden. A total of 245 families were approached of which 138 families responded. Data from 136 (56%) were complete with information on cleft type and could be analyzed. Results: Twenty-two percent (95% CI, 15-30) of the whole study group displayed risk for dyslexic reading difficulties on the SDS corresponding to the 7th to 10th percentiles in the population. Children with cleft palate only had a significantly higher prevalence of reading difficulties (37%) compared to children with unilateral cleft palate (19%) and bilateral cleft palate (10%). The frequency of reading difficulties in participants with comorbidity was 32%. Among a subgroup with reported comorbidity in areas of attention, language, and learning problems, there was a 2.5 times higher risk of reading disability compared to participants without this reported comorbidity. Conclusion: The prevalence of reading difficulties in the cleft palate population was higher than in the general population. Results showed that co-occurring difficulties were common in the cleft group and that reading difficulties often appear together with other, co-occurring neurodevelopmental difficulties.

scholarly journals Maternal Vitamin B12 Status and Risk of Cleft Lip and Cleft Palate Birth Defects in Tamil Nadu State, India

2021 ◽  
Vol 58 (5) ◽  
pp. 567-576
Author(s):  
Ronald G. Munger ◽  
Rajarajeswari Kuppuswamy ◽  
Jyotsna Murthy ◽  
Kalpana Balakrishnan ◽  
Gurusamy Thangavel ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Tamil Nadu ◽  
Cleft Lip ◽  
Maternal Nutrition ◽  
Case Control ◽  
Vitamin B ◽  
Plasma Vitamin ◽  
Maternal Vitamin ◽  
Increased Risk ◽  
Tamil Nadu State

Background and Objective: The causal role of maternal nutrition in orofacial clefts is uncertain. We tested hypotheses that low maternal vitamin B12 and low folate status are each associated with an increased risk of isolated cleft lip with or without cleft palate (CL±P) in a case–control study in Tamil Nadu state, India. Methods: Case-mothers of CL±P children (n = 47) and control-mothers of unaffected children (n = 50) were recruited an average of 1.4 years after birth of the index child and plasma vitamin B12, methylmalonic acid (MMA), total homocysteine (tHcy), and folate were measured at that time. Logistic regression analyses estimated associations between nutrient biomarkers and case–control status. Results: Odds ratios (ORs) contrasting biomarker levels showed associations between case-mothers and low versus high plasma vitamin B12 (OR = 2.48, 95% CI, 1.02-6.01) and high versus low plasma MMA, an indicator of poor B12 status (OR = 3.65 95% CI, 1.21-11.05). Case–control status was not consistently associated with folate or tHcy levels. Low vitamin B12 status, when defined by a combination of both plasma vitamin B12 and MMA levels, had an even stronger association with case-mothers (OR = 6.54, 95% CI, 1.33-32.09). Conclusions: Mothers of CL±P children in southern India were 6.5 times more likely to have poor vitamin B12 status, defined by multiple biomarkers, compared to control-mothers. Further studies in populations with diverse nutritional backgrounds are required to determine whether poor maternal vitamin B12 or folate levels or their interactions are causally related to CL±P.

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.

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