scholarly journals Maxillary incisor enamel defects in individuals born with cleft lip/palate

PLoS ONE ◽  
2020 ◽  
Vol 15 (12) ◽  
pp. e0244506
Author(s):  
Juliane R. Lavôr ◽  
Rosa Helena W. Lacerda ◽  
Adriana Modesto ◽  
Alexandre R. Vieira

Cleft lip with or without cleft palate (CLP) is considered the most frequent congenital malformations of the head and neck, with cleft individuals exhibiting more chances of presenting abnormalities such as developmental defects of enamel (DDE). Matrix metallopeptidase 2 (MMP2) is a membrane-bound protein with collagen-degrading ability and has important roles in tooth formation and mineralization. The aim of this study was to evaluate the frequency, location, severity and extent of DDE found in the maxillary incisors for groups of individuals born with CLP, as well as understanding their relationship with the cleft side. Besides, this study addresses the hypothesis that DDE can be influenced by variation in the MMP2 genes (rs9923304). Individual samples, clinical history, intraoral photographs and panoramic radiographs were obtained from 233 patients under treatment at the Cleft Lip and Palate Service of the University Hospital Lauro Wanderley at the Federal University of Paraíba. Digital images were examined by the same evaluator using the Classification of Defects According to the Modified DDE Index, and then loaded into the Image Tool software, where two measurements were made: total area of the buccal surface (SA) and the area of the DDE (DA), obtaining the percentage of the surface area affected (%SAD) (ICC = 0.99). Genomic DNA was extracted from saliva samples from 124 participants. Genotyping was carried out using TaqMan chemistry for one marker in MMP2 (rs9923304). Statistical analyses were performed by The Jamovi Project software. The Shapiro-Wilk test was applied, followed by the Student’s t-test and the Mann-Whitney test. Chi-square and Fisher’s exact tests, and odds ratio (OR) with 95% confidence interval (CI) calculations were used to determine Hardy-Weinberg equilibrium and statistically significant differences with an alpha of 0.05. No significant differences in the prevalence and extent of enamel defects were found between male and female individuals born with CLP (p = 0.058256). The frequency of individuals presenting teeth with DDE, in relation to the cleft and non-cleft side, was statistically different (p <0.001; OR = 7.15, CI: 4.674> 7.151> 10.942). However, the averages of %SAD were similar (p = 0.18). The highest means of the %SAD were found in individuals with bilateral cleft lip with or without cleft palate (BCLP) when compared to individuals with unilateral cleft lip with or without cleft palate (UCLP), for the teeth inside (IA) and outside the cleft area (OA) (p <0.001). Regardless of the cleft side, individuals with BCLP were 7.85 times more likely to have more than one third of the tooth surface affected, showing more frequently defects in the three thirds (OA: p <0.001) (IA: p = 0.03), as well as a higher frequency of more than one type of defect (OA: p = 0.000358) (IA: p = 0.008016), whereas in UCLP, defects were isolated and restricted to only one third, more frequently, the incisal third (OA: p = 0.009) (IA: p = 0.001), with greater frequency of milder defects, such as demarcated (p = 0.02) and diffuse (p = 0.008) opacities. A higher frequency of the T allele, less common, was observed in the group of CLP individuals who had all the affected teeth or at least two teeth with %SAD greater than 20% (p = 0.019843). Our results suggest that MMP2 may have a role in the cases that presented DDE and genotyping rs9923304 could serve as the basis for a genomic approach to define risks for individuals born with CLP. Frequency and severity of DDE is strongly related to the CLP phenotype, since the highest values were found for BCLP. However, the extent of the DDE is independent of its relationship with the side of the cleft.

2021 ◽  
pp. 105566562110577
Author(s):  
Jaideep Singh Chauhan ◽  
Sarwpriya Sharma

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.


2021 ◽  
pp. 105566562110295
Author(s):  
Åsa C. Okhiria ◽  
Fatemeh Jabbari ◽  
Malin M. Hakelius ◽  
Monica M. Blom Johansson ◽  
Daniel J. Nowinski

Objective: To investigate the impact of cleft width and cleft type on the need for secondary surgery and velopharyngeal competence from a longitudinal perspective. Design: Retrospective, longitudinal study. Setting: A single multidisciplinary craniofacial team at a university hospital. Patients: Consecutive patients with unilateral or bilateral cleft lip and palate and cleft palate only (n = 313) born from 1984 to 2002, treated with 2-stage palatal surgery, were reviewed. A total of 213 patients were included. Main Outcome Measures: The impact of initial cleft width and cleft type on secondary surgery. Assessment of hypernasality, audible nasal emission, and glottal articulation from routine follow-ups from 3 to 16 years of age. The assessments were compared with reassessments of 10% of the recordings. Results: Cleft width, but not cleft type, predicted the need for secondary surgery, either due to palatal dehiscence or velopharyngeal insufficiency. The distribution of cleft width between the scale steps on a 4-point scale for hypernasality and audible nasal emission differed significantly at 5 years of age but not at any other age. Presence of glottal articulation differed significantly at 3 and 5 years of age. No differences between cleft types were seen at any age for any speech variable. Conclusions: Cleft width emerged as a predictor of the need for secondary surgery as well as more deviance in speech variables related to velopharyngeal competence during the preschool years. Cleft type was not related to the need for secondary surgery nor speech outcome at any age.


2018 ◽  
Vol 55 (10) ◽  
pp. 1399-1408 ◽  
Author(s):  
Kristina Klintö ◽  
Evelina Falk ◽  
Sara Wilhelmsson ◽  
Björn Schönmeyr ◽  
Magnus Becker

Objective: To evaluate speech in 5-year-olds with cleft palate with or without cleft lip (CP±L) treated with primary palatal surgery in 1 stage with muscle reconstruction according to Sommerlad at about 12 months of age. Design: Retrospective study. Setting: Primary care university hospital. Participants: Eight 5-year-olds with cleft soft palate (SP), 22 with cleft soft/hard palate (SHP), 33 with unilateral cleft lip and palate, and 17 with bilateral CLP (BCLP). Main Outcome Measures: Percent oral consonants correct (POCC), percent consonants correct adjusted for age (PCC-A), percent oral errors, percent nonoral errors, and variables related to velopharyngeal function were analyzed from assessments of audio recordings by 3 independent speech-language pathologists. Results: The median POCC was 75.4% (range: 22.7%-98.9%), median PCC-A 96.9% (range: 36.9%-100%), median percent oral errors 3.4% (range: 0%-40.7%), and median percent nonoral errors 0% (range: 0%-20%), with significantly poorer results in children with more extensive clefts. The SP group had significantly less occurrence of audible nasal air leakage than the SHP and the BCLP groups. Before age 5 years, 1.3% of the children underwent fistula surgery and 6.3% secondary speech improving surgery. At age 5 years, 15% of the total group was perceived as having incompetent velopharyngeal function. Conclusions: Speech was poorer in many children with more extensive clefts. Children with CP±L had poorer speech compared to normative data of peers without CP±L, but the results indicated relatively good speech compared to speech of children with CP±L in previous studies.


2020 ◽  
Vol 11 (SPL3) ◽  
pp. 363-367
Author(s):  
Monisha K ◽  
Senthil Murugan P ◽  
Aravind Kumar

Cleft lip and palate (CLP) is one of the most prevalent malformations occurring in the head and neck region. Cleft lip and palate is the second most birth defect in the US after club foot. The incidence of Cleft lip and cleft palate is also very common in Indian Population with the rate of 1 in 700 births approximately. In India, the main reason for the formation of Cleft Lip and cleft palate is consanguineous marriage due to less awareness among people. Cleft lip can be unilateral or bilateral and may involve or palate. Again it can be further classified as Complete or Incomplete cleft lip and /or Cleft palate. Most of the patients were deprived of treatment, mainly due to their unawareness and their lower status. Cleft patients need comprehensive, cleft care management. So the aim of this study is to find the incidence of bilateral cleft lip or palate in patients who reported toSaveetha Dental College and Hospital, Chennai. This study is done with 76 patients40 males, 36 females)who visited a Saveetha Dental College during one year between June 2019-April 2020. All available data were extracted from patients case sheets and results were obtained through SPSS analysis. In this study, we observed that 90.5 % of patients reported with unilateral cleft lip and palate, where only 9.1% of patients reported with bilateral cases. Males were having high prevalence with 52.6 % and females 47.4%. conclusion, male patients had higher cleft lip and palate compared to females. The incidence of bilateral cases seen among cleft lip and palate is fewer in males.


2001 ◽  
Vol 38 (4) ◽  
pp. 358-373 ◽  
Author(s):  
Hans Dotevall ◽  
Hasse Ejnell ◽  
Björn Bake

Objectives: (1) To study the nasal airflow patterns during the velopharyngeal closing phase in speech produced by children with and without cleft palate. (2) To compare the nasal airflow patterns in bilabial, dental, and velar articulation in these children. Design: Prospective, cross-sectional study of a consecutive series of children with cleft palate referred for routine speech evaluation and controls. Setting: Sahlgrenska University Hospital, Göteborg, Sweden. Participants: Seventeen children with cleft lip and palate or cleft palate only and 22 controls aged 7 and 10 years. Method: Nasal airflow was transduced with a pneumotachograph attached to a nose mask and registered together with the acoustic speech signal. Sentences containing nasal-to-stop combinations in bilabial, dental, and velar articulatory positions were used. Main Outcomes Measures: The duration from peak to 5% nasal airflow, the maximum flow declination rate, and the nasal airflow at selected points in time during the transition from nasal-to-stop consonants. Results: In the cleft palate group, duration from peak to 5% nasal airflow was clearly longer than among the controls (p < .0001). The declination of airflow was slower (p < .006) and the rate of nasal airflow at the release of the stop consonant was higher (p < .004) in the cleft palate group. Differences between bilabial versus dental and velar articulation were found in the control group. Conclusion: Studies of the temporal and dynamic characteristics of the nasal airflow variations during speech appear potentially useful for the assessment of velopharyngeal function.


2021 ◽  
Vol 10 (36) ◽  
pp. 3178-3183
Author(s):  
Khursheed Muzammil ◽  
Nazim Nasir ◽  
Atiq Hassan ◽  
Preeti Padda ◽  
Zeba Siddiqui ◽  
...  

BACKGROUND A new-born baby having a cleft lip alone or a cleft lip with cleft palate is definitely painful to the parents. Such cases must be referred to a multi-disciplinary medical team having expertise in craniofacial defects. The role of a family doctor is significant in these cases as he / she is the one who can minimize the sufferings of the parents and their family members by ensuring antenatal diagnosis and extending support for the whole family post-diagnosis, during initial days of breastfeeding as well as bonding issues and also throughout an extended period of months and years of surgical interventions and speech therapies. These cleft lip and palate deformities are the most typical facial defects in children at birth. This leads to not only the altered appearance, defective speech, improper hearing, retarded growth of the baby but also deranged psychosocial well-being and disrupted social integration of the parents and family members. This article presents an overall epidemiological aspect of the said anomalies in the immense interest & benefit of all the concerned professionals. Patients with cleft lip or palate have significant problems in communication, and face difficulties with deglutition. The understanding of the anatomy and associated pathophysiology play a vital role in the management of these patients. The surgical correction remains the mainstay of treatment to date. This article describes common problems related to kids having cleft lip and palate anomalies and provides the latest surgical options available in such congenital cleft care. The genetic basis of the disease and recent advances in the developmental defects of this congenital abnormality is also discussed. In addition to physical corrections, psychological effects on the family need to be addressed at priority. The treating physician must consider the mental health of the parents. The current concepts of treatment will continue to evolve because of continuous developments in the fields of foetal surgery, genetic and tissue engineering. KEY WORDS Cleft, Lip, Palate, Aperture, Folic Acid, Congenital, Abnormality, Orofacial, Correction, Surgery


2001 ◽  
Vol 38 (1) ◽  
pp. 68-75 ◽  
Author(s):  
Tom Millard ◽  
Lynn C. Richman

Objective The purpose of this investigation was to study the adjustment and learning characteristics of children with different types of clefts. The hypotheses were that there may be different relationships among cleft variables (speech and appearance) according to the cleft types. Design The study compared three cleft groups on behavior rating, anxiety scales, depression scales, and self-perception (analyses of variance) and examined the influence of facial and speech ratings on self-perception (multiple regression analyses). Setting All patients were treated at a university hospital cleft palate clinic. Patients Sixty-five children aged 8 years to 17 years were selected based on nonsyndromic cleft (unilateral cleft lip and palate [ULP], bilateral cleft lip and palate [BLP], and cleft palate only [CPO]) and no significant neurological condition or hearing loss. Results The findings indicated children with CPO showed greater problems with parent- and teacher-reported depression, anxiety, and learning related to speech than children with ULP or BLP. The later two groups showed fewer problems and a greater relationship of problem to facial appearance. The children with ULP self-reported lower levels of depression than the other two groups. Conclusions Children with cleft show relatively good overall adjustment, but some problems appear related to speech and facial appearance. Subgroups may need to be studied separately.


2021 ◽  
Vol 24 (4) ◽  
Author(s):  
Kelly Fernanda Molena ◽  
Vivian Patricia Saldias Vargas Winckler ◽  
Gisele da Silva Dalben

Objective: Congenital defects, including cleft lip and palate, increase the morbidity and mortality in the affected population. This study aimed to determine the prevalence of cleft lip and palate in the city of Bauru, Brazil, by evaluation of registry in the Brazilian Livebirth Certificate (DNV) and the Information System on Livebirths (SINASC), and analyzed the concordance of diagnosis compared with registries of the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC/USP), located in the same city. Material and Methods: This retrospective observational study comprised analysis of all DNVs and identification of individuals with clefts born and living in Bauru, comparing with data from HRAC/USP. The prevalence was calculated by dividing the number of children born with clefts in the study period by the total number of livebirths registered. The reporting of different types of clefts was compared by the chi-square test. Results: Overall, 50,898 DNV were evaluated, among which there were 25 reported cases of cleft lip and/or palate. In the same period, HRAC/USP registered 77 cases born in Bauru, representing 67.5% of underreporting of the occurrence of clefts. Cleft palate was the most prevalent (34.9%), followed by cleft lip and palate (31.7%) and cleft lip (30.2%), mostly affecting males (58.5%). The reporting of cleft palate (16.12%) was lower compared to cleft lip (43.75%) and cleft lip and palate (54.54%). Conclusion: The study revealed predominance of cleft palate, with significant underreporting of clefts in the public health system, especially for cleft palate as compared to cleft lip and cleft lip and palate. Keywords Cleft lip; Cleft palate; Epidemiology; Prevalence; Reporting.


2020 ◽  
Vol 11 (SPL3) ◽  
pp. 1027-1031
Author(s):  
Joshini Shanmugam ◽  
Senthil Murugan P ◽  
Suresh V

Consanguinity is considered a significant factor in autosomal recessive diseases; it has also been associated with congenital anomalies such as hydrocephalus, polydactilia and Cleft Lip and Palate deformities. The risk of congenital conditions is higher in subjects born of first degree consanguineous parents compared with those of non-consanguineous marriages. The aim of this study is to evaluate the prevalence of consanguinity with formation of cleft lip/ cleft palate formation in Tamil, Telugu population. This is a retrospective study. The details of 86,000 patient records were reviewed and analysed, out of which 76 patients who had undergone surgical treatment for cleft lip and cleft palate deformities between June 2019 to march 2020 were included in this study. The details like age, gender, family history and cleft diagnosis were evaluated and entered in SPSS and analysed through a chi-square test. It was observed that 11% of patients reported with history of consanguineous marriages which was associated with formation of cleft lip/palate. Within the limits of the study, it was concluded that consanguinity had a significant role in formation of cleft lip/cleft palate.


1999 ◽  
Vol 36 (5) ◽  
pp. 413-424 ◽  
Author(s):  
Samuel Berkowitz

Objective: To compare the multicenter retrospective and prospective spaciotemporal (4D) serial analyses of complete unilateral (CUCLP) and complete bilateral (CBCLP) cleft lip and palate casts that had undergone different treatment procedures. The involved institutions are Miami Craniofacial Anomalies Foundation, South Florida Cleft Palate Clinic; University Hospital of Nijmegen Cleft Palate Center; Free University of Amsterdam Cleft Palate Center; Academic Hospital (Dijkzigt/Sophia) Rotterdam Cleft Palate Center; Center for Craniofacial Anomalies, University of Illinois College of Medicine; Cleft Palate Center, Sahigrenska University Hospital, Göteborg, Sweden; and Children's Memorial Medical Center, Northwestern University Cleft Palate Institute. Design: Using serial casts of the upper jaw and an electromechanical digitizer with special CadCam software (CadKey), the occlusal relationships and morphometric palatal growth changes that occur under the influence of presurgical orthopedics and various surgical procedures will be studied. It is anticipated that 3D geometric data extracted from serial casts will identify the important geometric palatal parameters present before cleft surgical closure, which will supply objective criteria for establishing a scientific basis for improved surgical therapy. This research study will test three hypotheses: (1) Conservative (varying the timing of surgical cleft closure according to the size of the cleft space) lip and palatal surgery will permit “catch-up” palatal growth and normalize palatal growth and development. (2) The amount of mucoperiosteal tissue relative to the size of the cleft space is important in determining the timing of palatal surgery, as it influences the degree of scarring and ultimately the palate's adult size and form. (3) Presurgical orthopedics (the use of appliances soon after birth) can stimulate palatal growth beyond its normal growth potential. Results: In a previous project and again after reviewing the data already collected during the first year of this study, it has been shown that incremental changes in size of palatal segments in CUCLP and CBCLP cases prior to surgery vary slightly. The CBCLP cases grow slightly faster than CUCLP cases before surgery, but growth of the CBCLP cases decreases in acceleration after surgery. Reasons for these differences will be determined when more cases are analyzed and subjected to biostatistical analysis.


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