Clinical and Epidemiologic Description of Orofacial Clefts in Bogota and Cali, Colombia, 2001-2015

Objectives: Among congenital craniofacial anomalies, orofacial clefts (OFCs) are the most common. Global prevalence is 2 in 1000 and in Colombia, 1 in 700. Our goal was to describe cleft palate (CP) prevalence and cleft lip with or without cleft palate (CL±P) from 2001 to 2015 in Bogota and Cali, Colombia. Method: Using the ECLAMC case-control design method, information was obtained from the Congenital Anomalies Monitoring and Surveillance Programs in Bogota and Cali. We describe the prevalence of cases classified into the following groups: isolated, polymalformed, and syndromic. The proportion of cases and controls was 1:4. Data were analyzed using frequency distribution and Student t test to compare means and 95% confidence intervals (CIs). Results: We identified 529 OFC cases and 2116 controls from 448,930 births: a rate of 11.8 per 10,000 (CI = 10.80-12.83). From the total cases, 73% were identified with CL/CP compared to 27% with CP. Males had higher CL±P (59%) prevalence, whereas the highest neonatal mortality was observed among polymalformed cases (7%). The most common anomaly identified among our cases was cleft lip without isolated cleft palate (58%). We found that OFCs are linked to birthweight, size, and gestational age and higher parity with statistically significant differences in all variables compared to controls. Conclusions: OFC is a highly prevalent anomaly in Colombia, with a range of maternal and infant differences across case subgroups. The identification of important OFC subgroups that follow certain patterns of prevalence may prove useful to primary and tertiary care facilities with the goal of reducing further disability.

Download Full-text

Morphological Presentation of Orofacial Clefts: An Epidemiological Study of 5004 Patients in a Tertiary Care Hospital of Central India

The Cleft Palate-Craniofacial Journal ◽

10.1177/10556656211057739 ◽

2021 ◽

pp. 105566562110577

Author(s):

Jaideep Singh Chauhan ◽

Sarwpriya Sharma

Keyword(s):

Cleft Palate ◽

Epidemiological Study ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Tertiary Care ◽

Central India ◽

Care Hospital ◽

Orofacial Clefts ◽

Chi Square ◽

The Right

Objective: To analyse the morphological presentation of orofacial clefts, gender, syndromes and systemic anomalies associated with them. Design: This was an epidemiological study performed in the patients who were registered for cleft lip and palate surgeries in our centre. The data was evaluated both retrospectively as well as prospectively. Patients/ Participants: The patients registered from November 2006 to April 2021 were studied. Out of 5276 patients, data of 5004 cases were analysed, rest 272 patients were excluded due to lack of information. Statistical analysis and Chi square test were applied. Results: Cleft deformities were more common in males than females. Cleft lip with palate was the commonest phenotype (52.2%). It was followed by isolated cleft lip (22.9%), isolated cleft palate (22.1%), rare clefts (1.62%) and syndromic clefts (1.18%). Unilateral variants were more frequent than bilateral. In unilateral, left side was more common than the right side. Among bilateral, most of the cases had premaxillary protrusion. In the present study, 3.46% of all the patients had associated anomalies affecting their other organs. Less common cleft phenotypes like microform cleft lip and submucous cleft palate ± bifid uvula showed frequency of 0.62% and 0.64% respectively. Conclusion: Thorough examination of cleft deformity should be done as it may appear as an isolated deformity or part of a syndrome and have associated systemic anomalies. This may help us to deliver comprehensive care to the patients and can prevent potential operative complications.

Download Full-text

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

The Cleft Palate-Craniofacial Journal ◽

10.1597/06-246.1 ◽

2008 ◽

Vol 45 (6) ◽

pp. 592-596 ◽

Cited By ~ 23

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.

Download Full-text

Maternal Smoking during Early Pregnancy, GSTP1 and EPHX1 Variants, and Risk of Isolated Orofacial Clefts

The Cleft Palate-Craniofacial Journal ◽

10.1597/06-011.1 ◽

2007 ◽

Vol 44 (4) ◽

pp. 366-373 ◽

Cited By ~ 15

Author(s):

Dorian Ramirez ◽

Edward J. Lammer ◽

David M. Iovannisci ◽

Cecile Laurent ◽

Richard H. Finnell ◽

...

Keyword(s):

Cleft Palate ◽

Maternal Smoking ◽

Cleft Lip ◽

Detoxification Enzymes ◽

Glutathione S Transferase ◽

Orofacial Clefts ◽

Functional Polymorphisms ◽

Increased Risk ◽

Cleft Lip Palate ◽

Isolated Cleft Palate

Objective: To examine the interactions between four fetal xenobiotic metabolizing gene polymorphisms, maternal cigarette smoking, and risk for oral cleft defects. Design and Participants: California population–based case-control study of 431 infants born with isolated orofacial clefts and 299 nonmalformed controls. Main Outcome Measures: Infants were genotyped for functional polymorphisms of the detoxification enzymes microsomal epoxide hydrolase-1 (EPHX1 T→C [Tyr113His], and A→G [His139Arg]), and glutathione-S transferase Pi-1 (GSTP1 A→G [Ile105Val] and C→T [Ala114Val]), and risks for cleft outcomes were measured for gene only and gene-maternal smoking effects. Results: Although smoking was associated with an increased risk for isolated cleft lip ± palate, we found no independent associations of genotypes of EPHX1-codon 113 or GSTP1-codon 105 polymorphisms for either isolated cleft lip ± palate or isolated cleft palate. The heterozygote genotype for the EPHX1-codon 139 polymorphism was associated with an increased risk of isolated cleft palate (odds ratio = 1.6 [95% confidence interval, 1.0 to 2.6]). Infant EPHX1 and GTSP1 polymorphic variants did not appreciably alter the risks for clefts associated with maternal smoking, nor were any EPHX1 combined genotype-specific risks found. Infant genotypes of the GSTP1-codon 105 polymorphism, combined with glutathione-S-transferase-μ-1 null genotypes, did not appreciably alter the risk of orofacial clefts. Conclusions: Our results suggest that genetic variation of the detoxification enzymes EPHX1 and GSTP1 did not increase the risks of orofacial clefting, nor do they influence the risks associated with maternal smoking.

Download Full-text

Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate

Scientific Reports ◽

10.1038/s41598-020-78602-w ◽

2020 ◽

Vol 10 (1) ◽

Author(s):

Mimi Yow ◽

Nuno V. Hermann ◽

Yuan Wei ◽

Agneta Karsten ◽

Sven Kreiborg

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Population Based ◽

Tooth Agenesis ◽

Orofacial Clefts ◽

Dental Epithelium ◽

Pre Treatment ◽

Isolated Cleft Palate ◽

Dental Maturity ◽

Deep Phenotyping

AbstractIsolated orofacial clefts (OFC) are common with poorly understood aetiology. Heterogeneous phenotypes and subphenotypes confound aetiological variant findings. To improve OFC phenome understanding, population-based, consecutive, pre-treatment infants with isolated unilateral cleft lip (UCL, n = 183) and isolated cleft palate (CP, n = 83) of similar ancestry were grouped for deep phenotyping. Subphenotypes stratified by gender and cleft severity were evaluated for primary dental malformations and maturation using radiographs. We found that cleft severity and tooth agenesis were inadequate to distinguish heterogeneity in infants with UCL and CP. Both groups featured slow dental maturity, significantly slower in males and the UCL phenotype. In 32.8% of infants with UCL, supernumerary maxillary lateral incisors were present on the cleft lip side, but not in infants with CP, suggesting a cleft dental epithelium and forme fruste cleft dentoalveolus of the UCL subphenotype. The findings underscored the importance of deep phenotyping to disclose occult OFC subphenotypes.

Download Full-text

A Population-Based Evaluation of Antenatal Diagnosis of Orofacial Clefts

The Cleft Palate-Craniofacial Journal ◽

10.1597/06-202.1 ◽

2008 ◽

Vol 45 (2) ◽

pp. 148-153 ◽

Cited By ~ 21

Author(s):

Kathleen A. Russell ◽

Victoria M. Allen ◽

Mary E. MacDonald ◽

Kirsten Smith ◽

Linda Dodds

Keyword(s):

Nova Scotia ◽

Cleft Palate ◽

Cleft Lip ◽

Chromosomal Abnormalities ◽

Antenatal Diagnosis ◽

Population Based ◽

Orofacial Clefts ◽

Antenatal Detection ◽

Type Mode ◽

Isolated Cleft Palate

Objectives: To evaluate the changes in prevalence and antenatal detection of cleft lip with or without cleft palate and isolated cleft palate and to describe the association between anomalies and rates of antenatal diagnosis in Nova Scotia from 1992 to 2002. Design: This population-based cohort study employed the Nova Scotia Atlee Perinatal Database, the Fetal Anomaly Database, and IWK Cleft Palate Database in Halifax, Nova Scotia, Canada. Outcome Measures: Cleft type, mode of diagnosis, and associated abnormalities of orofacial clefts for liveborn infants, stillbirths, and second trimester terminations of pregnancy between 1992 and 2002 were determined. Results: There were 225 fetuses identified as having orofacial clefts. The overall prevalence of clefts was 2.1 in 1000 live births, and this prevalence did not change with time. The overall antenatal detection of cleft lip with or without cleft palate was 23%; however, there was improvement in detection of cleft lip with or without cleft palate from the years 1992 to 1996 (14%) to the years 1997 to 2002 (30%, p = .02). No isolated cleft palates were detected antenatally. Associated structural anomalies were seen in 34.2% of cases with orofacial clefts, and chromosomal abnormalities were associated with 9.8%. Conclusions: The prevalence of orofacial clefts in Nova Scotia has not changed from 1992 to 2002. The proportion of antenatally diagnosed cleft lip with or without cleft palate in Nova Scotia is consistent with rates reported in the literature and has increased from 1992 to 2002.

Download Full-text

PAX7, PAX9 and RYK Expression in Cleft Affected Tissue

Medicina ◽

10.3390/medicina57101075 ◽

2021 ◽

Vol 57 (10) ◽

pp. 1075

Author(s):

Mārtiņš Vaivads ◽

Ilze Akota ◽

Māra Pilmane

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Rank Correlation ◽

Control Group ◽

Orofacial Clefts ◽

Spearman’S Rank Correlation ◽

Morphological Studies ◽

Affected Tissue ◽

Isolated Cleft Palate

Background and Objectives: Cleft lip with or without cleft palate is one of the most common types of congenital malformations. Transcription factors paired box 7 and 9 (PAX7, PAX9) and receptor-like tyrosine kinase (RYK) have been previously associated with the formation of orofacial clefts but their exact possible involvement and interactions in the tissue of specific cleft types remains uncertain. There is a limited number of morphological studies analyzing these specific factors in cleft affected tissue due to ethical aspects and the limited amount of available tissue material. This study analyses the presence of PAX7, PAX9, and RYK immunopositive structures within different cleft affected tissue to assess their possible involvement in cleft morphopathogenesis. Materials and Methods: Cleft affected tissue was collected from non-syndromic orofacial cleft patients during cleft correcting surgery (36 patients with unilateral cleft lip, 13 patients with bilateral cleft lip, 26 patients with isolated cleft palate). Control group oral cavity tissue was obtained from 7 patients without cleft lip and palate. To evaluate the number of immunopositive structures in the cleft affected tissue and the control group, a semiquantitative counting method was used. Non-parametric statistical methods (Kruskal–Wallis H test, Mann–Whitney U test, and Spearman’s rank correlation) were used. Results: Statistically significant differences for the number of PAX7, PAX9, and RYK-positive cells were notified between the controls and the patient groups. Multiple statistically significant correlations between the factors were found in each cleft affected tissue group. Conclusions: PAX7, PAX9, and RYK have a variable involvement and interaction in postnatal morphopathogenesis of orofacial clefts. PAX7 is more associated with the formation of unilateral cleft lip, while PAX9 relates more towards the isolated cleft palate. The stable presence of RYK in all cleft types indicates its possible participation in different facial cleft formations.

Download Full-text

Reduced Socioeconomic Disparities in Cleft Care After Implementing a Cleft Nurse Navigator Program

The Cleft Palate-Craniofacial Journal ◽

10.1177/10556656211005646 ◽

2021 ◽

pp. 105566562110056

Author(s):

Connor Wagner ◽

Carrie E. Zimmerman ◽

Carlos Barrero ◽

Christopher L. Kalmar ◽

Paris Butler ◽

...

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Care Center ◽

Tertiary Care ◽

Multidisciplinary Care ◽

Socioeconomic Disparities ◽

Outpatient Appointment ◽

Nurse Navigator ◽

Insured Patients ◽

The Impact

Objective: To evaluate the impact of a Cleft Nurse Navigator (CNN) program on care for patients with cleft lip and cleft palate and assess the programs efficacy to reduce existing socioeconomic disparities in care. Design: Retrospective review and outcomes analysis (n = 739). Setting: Academic tertiary care center. Patients: All patients presenting with cleft lip and/or cleft palate (CL/P) born between May 2009 and November 2019 with exclusions for atypical clefts, submucous cleft palates, international adoption, and very late presentation (after 250 days of life). Interventions: Multidisciplinary care coordination program facilitated by the CNN. Main Outcome Measures: Patient age at first outpatient appointment and age at surgery, reported feeding issues, weight gain, and patient-cleft team communications. Results: After CNN implementation, median age at outpatient appointment decreased from 20 to 16 days ( P = .021), volume of patient-cleft team communications increased from 1.5 to 2.8 ( P < .001), and frequency of reported feeding concerns decreased (50% to 35%; P < .001). In the pre-CNN cohort, nonwhite and publicly insured patients experienced delays in first outpatient appointment ( P < .001), cleft lip repair ( P < .011), and cleft palate repair ( P < .019) compared to white and privately insured patients, respectively. In the post-CNN cohort, there were no significant differences in first appointment timing by race nor surgical timing on the basis of racial identity nor insurance type. Conclusions: A variety of factors lead to delays in cleft care for marginalized patient populations. These findings suggest that a CNN can reduce disparities of access and communication and improve early feeding in at-risk cohorts.

Download Full-text

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

Human Genetics ◽

10.1007/s00439-016-1754-7 ◽

2017 ◽

Vol 136 (3) ◽

pp. 275-286 ◽

Cited By ~ 68

Author(s):

Elizabeth J. Leslie ◽

Jenna C. Carlson ◽

John R. Shaffer ◽

Azeez Butali ◽

Carmen J. Buxó ◽

...

Keyword(s):

Cleft Palate ◽

Cleft Lip ◽

Orofacial Clefts ◽

Genome Wide ◽

Meta Analyses ◽

Novel Associations

Download Full-text

A Comparison of Oral-Nasal Balance Patterns in Speakers who are Categorized as “Almost but Not Quite” and “Sometimes but Not Always”

The Cleft Palate-Craniofacial Journal ◽

10.1597/03-075.1 ◽

2004 ◽

Vol 41 (5) ◽

pp. 526-534 ◽

Cited By ~ 7

Author(s):

David L. Jones ◽

Hughlett L. Morris ◽

Duane R. Van Demark

Keyword(s):

Cleft Palate ◽

Care Center ◽

Tertiary Care ◽

Area Under The Curve ◽

Mean Amplitude ◽

Tertiary Care Center ◽

Craniofacial Anomalies ◽

Time Integral ◽

Temporal Aspects ◽

Perceptual Assessment

Objective The purpose of this study was to determine whether amplitude or temporal patterns of oral-nasal balance differentiate speakers with cleft palate who are classified as belonging to the “almost but not quite” (ABNQ) and “sometimes but not always” (SBNA) subgroups of marginal velopharyngeal inadequacy. Design The nasal accelerometric vibrational index (NAVI) was used to measure amplitude and temporal aspects of oral-nasal balance during the productions of oral and nasal syllables, words, and sentences. NAVI measures obtained include mean amplitude, time integral (area under the curve), duration, rise time, and fall time. Setting Tertiary care center for patients with cleft palate–craniofacial anomalies. Participants Seventeen patients with repaired cleft palate who were assigned by perceptual assessment to the ABNQ subgroup and 17 patients who were assigned to the SBNA subgroup. Results No differences were found between the ABNQ and SBNA subgroups with regard to patterns of nasalization. Further analysis as a function of level of production and phonetic context revealed no differences between the subgroups. Conclusions Although clinicians may report perceived differences in the resonance patterns of speakers who fall within the category of marginal velopharyngeal inadequacy, further division into the ABNQ and SBNA subgroups has yet to be validated.

Download Full-text