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.

PAX7, PAX9 and RYK Expression in Cleft Affected Tissue

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.

Evaluation of Eustachian tube function in patients of cleft palate and effects of palatoplasty on these findings

<p class="abstract"><strong>Background:</strong> Isolated cleft palate and cleft palate and cleft lip patients have poor Eustachian tube function which results in hearing impairment that too in the speech formative years. Aim of study was to evaluate tympanometric findings in patient of cleft palate and effect of palatoplasty on both short term and long term postoperatively.</p><p class="abstract"><strong>Methods:</strong> The subjects consisted of patients attending the cleft lip and palate clinic. This was a combined clinic consisting of department of plastic surgery, department of ENT and department of dental surgery held every month at a tertiary care hospital in Delhi. Study consisted of three groups of patients namely preoperative group, postoperative group and pre-postoperative group.</p><p class="abstract"><strong>Results:</strong> No significant difference was observed in tympanometric abnormalities in cases of combined cleft lip and palate as compared to isolated cleft palate. After age of 5 months once changes of OME has set in there was no significant change in middle ear findings irrespective of palatal repair.</p><p class="abstract"><strong>Conclusions:</strong> There is a very high prevalence of otitis media with effusion in these patients. The changes do resolve spontaneously after age of seven, this perhaps is due to combined effect, growth, development and l maturity of Eustachian tube and palatal surgery rather than palatal surgery alone.</p><p> </p>

Non-Syndromic Cleft Palate and Transverse Limb Deficiency Segregating in a Family of Dogs

Oro-facial clefts are one of the most common birth defects in humans, most are non-syndromic, and few have established molecular diagnoses. Here we report the morphology and genetic transmission of isolated cleft palate in a naturally occurring dog model. Palate morphology was evaluated grossly, by microcomputed tomography, and by histologic examination of serial coronal sections. In repeated matings of a clinically normal sire/dam pair, 18% (12/68) of live-born pups had full-length cleft of the secondary palate with no other abnormalities. At the gestational stage of normal palate fusion, palate shelves of affected fetuses were above the tongue but did not meet at midline. Mandibles were normal, and oral epithelium and periderm were intact. Genetic transmission was determined in experimental backcross matings of surgically repaired affected dogs with a normal parent, which produced 20 cleft, 11 male and 9 female, and 24 normal-palate pups. Furthermore, all offspring of matings between affected dogs had cleft palate. These data were as expected under the hypothesis of autosomal recessive transmission of the cleft palate trait ([1 df, N = 44] Χ2 = 0.36, p = 0.55). About half of cleft offspring produced in backcross matings of which the dam had cleft palate, also exhibited various transverse limb deficiencies. No limb deficiencies occurred in backcross offspring of a dam with normal palate, suggesting a possible maternal effect. This dog family constitutes a large animal model of non-syndromic isolated cleft palate coincident with developmental limb deficiency.

How Does Hypodontia Compare in Nonsyndromic Pierre Robin Sequence Versus Isolated Cleft Palate and Isolated Cleft Lip?

Objective: To assess the prevalence and patterns of hypodontia in nonsyndromic Pierre Robin sequence (PRS) and compare it with hypodontia in nonsyndromic isolated cleft palates and isolated cleft lips. Design: Retrospective cohort study. Setting: Alder Hey Children’s Hospital, United Kingdom. Patients: Patients with nonsyndromic PRS (group 1), isolated cleft palate (group 2), and isolated cleft lip (group 3). Main Outcome Measures: Hypodontia in the permanent dentition assessed from orthopantomographs. Results: A total of 154 patients were included. Group 1 had the highest incidence of hypodontia with 47% having at least one tooth congenitally absent. Groups 2 and 3 had reduced rates of hypodontia with 27% and 19% of the groups missing teeth, respectively; 93% of cases of hypodontia in group 1 involved the absence of at least one second premolar. Of these patients, there was found to be bilateral agenesis of second premolars in 50% of cases. Conclusions: Patients with PRS and cleft palates are more likely to have hypodontia than those with isolated cleft palates or unilateral cleft lips. Patients with PRS have more severe hypodontia than those with isolated cleft palates or unilateral cleft lips. Bilateral agenesis of lower second premolars is a commonly seen pattern among patients with PRS. In this large UK study, a similar prevalence and pattern of hypodontia to other nonsyndromic PRS populations worldwide has been demonstrated.

Cleft Lip and/or Palate in Infants Prenatally Exposed to Opioids

Objective: To determine the prevalence and odds ratios for cleft lip and/or palate (CL/P) among infants prenatally exposed to opioids with or without neonatal opioid withdrawal syndrome (NOWS). Design: This study represents an exploratory, retrospective cohort study design of newborn medical health records from 2011 to 2016. Setting: Records were drawn from a regional health system located in South Central Appalachia. Population and Study Sample: The original population yielded 3 cohorts of infants: (1) infants with opioid exposure (OE) but not requiring pharmacological intervention (OE; N = 168); (2) infants with NOWS requiring pharmacological intervention (N = 294); and (3) infants with no opioid exposure (NOE; N = 16 090), the primary comparison group. Main Outcome: Infants in the NOWS and OE groups showed significantly increased prevalence and odds ratios for CL/P when compared to those in the NOE group. Results: Prevalence rates per 1000 live births for infants with OE (35.71) and infants with NOWS (6.80) were significantly higher than those for infants with NOE (1.37). Comparison of infants with OE to the NOE group revealed significantly increased odds for CL/P, isolated cleft palate (CP), cleft lip (CL), and cleft lip and palate (CLP) (27.05, 41.81, 19.26, 19.37, respectively; all Ps < .008). The odds ratios for infants with NOWS compared to the NOE group were significantly higher for CL/P and CP (5.00 and 10.98, respectively; Ps < .03) but not for CL and CLP. Conclusion: The results provide additional evidence that prenatal OE should be considered among the critical environmental risk factors that can contribute to CL/P.

Characteristics of craniofacial morphology and factors affecting them in patients with isolated cleft palate

Background Myriad maxillo-mandibular occlusal relationships are observed in patients with isolated cleft palate (ICP), unlike in patients with other cleft types, such as cleft lip and palate. Objectives This study aimed to categorise the characteristics of craniofacial morphology in patients with ICP, and investigate the clinical factors affecting these categorised morphological characteristics. Methods Thirty-six girls with ICP (age (mean ± SD): 5.36 ± 0.36 years) underwent cephalometric measurement. Their craniofacial morphology was categorised using cluster analysis. Profilograms were created and superimposed onto the standard Japanese profilograms to visualise the morphological characteristics of each group (cluster). The mean values and variations in the linear and angular measurements of each group were compared with the Japanese standards and statistically analysed using Dunnett’s test after the analysis of variance. Fisher’s exact test was used to analyse the differences between the cleft types (cleft in the hard and/or soft palate) and skills of the operating surgeons in the groups. Results Cluster analysis of craniofacial morphologies in patients with ICP resulted in the formation of three categories: the first cluster exhibited a relatively harmonious anteroposterior relationship between the maxilla and the mandible (22.2%); the second cluster exhibited crossbite owing to a significantly smaller maxilla (33.3%); and the third cluster exhibited a smaller mandible with posterior rotation showing skeletal class II malocclusion (44.4%). Differences in cleft types and surgeons were not associated with the distribution of patients in each cluster. Conclusions Patients with ICP exhibited characteristic morphological patterns, such as bimaxillary retrusion or severe mandibular retrusion, besides the anterior crossbite frequently found in patients with cleft lip and palate . Understanding the typical morphological characteristics could enable better diagnostic categorisation of patients with ICP, which may eventually improve orthodontic treatment planning.

Dental anomalies frequency in submucous cleft palate versus complete 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.

Cárie Dentária em Indivíduos com Fissuras Labiopalatinas: Revisão de Literatura

As fissuras labiopalatinas (FLP) são as malformações congênitas mais comuns da região craniofacial e apresentam diferentes fenótipos e características clínicas, que diferem entre si de acordo com as estruturas anatômicas envolvidas: fissura de lábio, fissura de lábio e palato e fissura de palato isolada. A etiologia das FLP é multifatorial e inclui fatores genéticos e ambientais. O objetivo do presente estudo foi investigar o papel das fissuras labiopalatinas na prevalência de cárie dentária por meio de uma revisão na literatura. O defeito anatômico que envolve o rebordo alveolar e/ou o palato pode resultar em agenesias dentárias, dentes supranumerários, anomalias de forma e estrutura, bem como atresia maxilar, mordidas cruzadas posteriores e apinhamentos dentários. Também, a presença da FLP pode resultar aos indivíduos problemas durante alimentação, pronúncia de alguns fonemas, audição e integração social, o que poderia afetar a qualidade de vida do indivíduo e da dinâmica familiar. Quando a saúde bucal de crianças e adolescentes com FLP foi investigada, maior retenção do biofilme microbiano nas superfícies dentárias, de inflamação gengival e maior ocorrência de cárie dentária foram observados. Para um diagnóstico e tratamento adequados, é fundamental uma abordagem multidisciplinar, individualizada, para orientação e planejamento do tratamento dos indivíduos com a malformação, desde o nascimento até a fase adulta. O conhecimento dos efeitos da FLP na saúde bucal e no bem-estar dos indivíduos e das famílias afetadas é fundamental para mudanças nas políticas públicas das práticas de saúde e redução da sobrecarga da presença da malformação congênita. Palavras-chave: Cárie Dentária. Fenda Labial. Fissura Palatina. Saúde Bucal Abstract Cleft lip and palate (CLP) are the most common congenital malformations of the craniofacial region and they present different phenotypes and clinical characteristics, which differ according to the anatomical structures involved: cleft lip, cleft lip and palate and isolated cleft palate. The etiology of CLP is multifactorial and includes genetic and environmental factors. The aim of this study was to investigate the role of cleft lip and palate in the prevalence of dental caries through a literature review. The anatomical defect involving the alveolar ridge and / or the palate can result in dental agenesis, supernumerary teeth, anomalies in shape and structure, as well as maxillary atresia, posterior cross bites and dental crowding. Also, the presence of CLP can result in problems for individuals during feeding, pronunciation of some phonemes, hearing and social integration, which could affect the individual's quality of life and family dynamics. When the oral health of children and adolescents with CLP was investigated, greater retention of microbial biofilm on dental surfaces, gingival inflammation and the occurrence of dental caries were observed. For an adequate diagnosis and treatment, a multidisciplinary and individualized approach is essential to guide and plan the treatment of individuals with the malformation, from birth to adulthood. The knowledge of the effects of FLP on oral health and on the well-being of affected individuals and families is fundamental to changes in public health practice policies and to reduce the burden of the presence of the congenital malformation. Keywords: Cleft Lip. Cleft Palate. Dental Caries. Oral Health.