Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models

Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic—NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype–phenotype correlations. We then present the animal models used to study these defects.

THE SPEECH SOUND ERRORS AND LITERACY SKILLS IN CHILDREN WITH OROFACIAL CLEFTS

Objective: To investigate the speech sound errors and literacy skills in children with orofacial clefts (cleft palate& cleft lip and palate). Study Design: Comparative cross-sectional study. Place and Duration of Study: Centre for Clinical Psychology, University of the Punjab, Lahore, from Mar 2016 to Feb 2017. Methodology: A sample of 42 participants (cleft lip & palate: n=18 and cleft palate: n=24) was collected. Two stage sampling strategy was used. Each child was individually screened through Slosson intelligence test revised checklist of orofacial cleft and diagnostic statistical Manual-V checklist. Then children were provided with assessment measures which included demographic informational questionnaire, community developed VPI Screener, word list for articulation and phonological processes, annual status of education report (ASER) and curriculum-based measurement (Written Expression). Manual SODA (substitution, omission, distortion and addition) analysis was done to know about the type of speech sound errors. Results: Independent sample t-test was used to compare the differences of speech sound errors (52.11 ± 25.08), (47.29 ± 25.38), reading skills (3.67 ± 1.14), (3.75 ± 1.26) and writing skills (14.61 ± 13.49), (25.14 ± 29.16) in cleft lip & palate and cleft palate respectively, indicated that there were no differences; with p-value: p=0.54, 0.83, 0.13. Conclusion: Results indicated no significant differences in speech sound errors, reading, writing skills and resonance between children with cleft lip & palate and cleft palate.

Maternal Common Cold or Fever During Pregnancy and the Risk of Orofacial Clefts in the Offspring: A Systematic Review and Meta-analysis

The common cold and/or an associated fever during pregnancy have/has been suspected to harm the developing fetus. We sought possible correlations between a maternal common cold or fever during pregnancy and the risk of orofacial clefts in the offspring. We systematically searched PubMed and Embase using appropriate keywords, and we checked the reference lists of retrieved articles. We used random-effects models to estimate overall relative risks. Incidence of orofacial clefts. We included 13 case-control studies. Modest but statistically significant associations were found between a maternal common cold and cleft lip with or without a cleft palate (CL/CP) (odds ratio [OR] 2.17; 95% confidence interval [CI] 1.66–2.83) and a cleft palate only (CPO) (OR 3.08; 95% CI 1.5–6.34). Furthermore, maternal fever was also associated with an increased risk of CL/CP (OR 1.91, 95% CI 1.3–2.8) and CPO (OR 1.48, 95% CI 0.83–2.63) in the offspring. Further analyses of maternal influenza (alone) yielded similar results. Although evidence of heterogeneity should be carefully evaluated, our findings suggest that maternal common cold or fever during pregnancy may be associated with a greater risk of CL/CP or CPO in the offspring. Future cohort studies using valid assessments of maternal common cold exposure during pregnancy that consider the severity of fever are needed to clarify the contribution of maternal common cold or fever status to the risk of orofacial clefts in children.

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

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.

Refractive Errors and Strabismus In Patients with Orofacial Clefts

Purpose: To evaluate the prevalence of refractive errors and strabismus in patients with orofacial clefts. Methods: This retrospective study analyzed the medical records of 54 patients with orofacial clefts between August 2018 and March 2020. A complete eye examination was performed, including visual acuity assessment on a logMAR scale, anterior biomicroscopy, cycloplegic refraction, eye motility examination, and indirect ophthalmoscopy. Results: The mean age of the patients at presentation was 9.47 years. Twentythree (42.59%) patients had isolated cleft palate (CP), 10 (18.52%) had cleft lip (CL), and 21 (38.89%) had cleft lip and palate (CLP). The mean spherical equivalent was 1.30D (±1.56) in CL, 0.32D (±2.24) in CLP, and 0.62D (±3.76) in CP. The prevalence of refractive error, either spherical or cylinder >0.5 was 88%. The most common refractive error was hyperopia (60%), followed by astigmatism (54%) and myopia (16%). Overall, 52.63% of the patients were prescribed glasses. No statistically significant difference was observed between the groups with respect to the need for prescription of glasses (p=0.6753). There were 15 patients with some type of strabismus, and other ophthalmological changes were observed in 13 patients. Conclusion: In this population with orofacial clefts, the prevalence of refractive errors and strabismus was 88% and 22%, respectively.

Do Orofacial Clefts Impair Breastfeeding and Increase the Prevalence of Anemia?

Objective This study aimed to correlate the prevalence of iron deficiency anemia and breastfeeding with orofacial clefts in children. Design Data on the participant profile, presence and type of the cleft lip and/or palate (CL/P), and records on anemia and breastfeeding were collected from patients’ charts, and submitted to statistical analysis by χ2 test ( p < .05; software SPSS 23.0). Results Two-hundred and ten files were divided according to: CL/P presence (cleft group; n = 132) or absence (control group; n = 78). Group CL/P was subdivided according to the type of cleft: CL/P-I (cleft lip; n = 35); CL/P-II (cleft lip and palate; n = 45); CL/P-III (cleft palate; n = 43); and CL/P-IV (rare orofacial clefts; n = 9). Group CL/P had significantly more records on anemia ( p = .016) and fewer records on breastfeeding (P<.01) than controls. More records on anemia occurred in CL/P-II ( p = .004) and CL/P-IV ( p = .006) than the control group. The comparison among the orofacial cleft types regarding the anemia records showed no statistically significant differences ( p = .123). Group CL/P-I had more records on breastfeeding than the other cleft types ( p < .01). Conclusions Thus, it is suggested that the breastfeeding process is more complex, and the history of anemia is more frequent, in children with cleft lip and palate or rare orofacial clefts than in children without clefts.