Cleft Individuals Research Articles

Interpersonal impressions of cleft and non-cleft adolescents: A panel assessment study of peers, laypersons, and clinicians using 3dMD images

BackgroundPatients with cleft lip and palate anomalies suffer from associated negative psychosocial effects despite undergoing reconstructive surgeries. Discrimination from others may be a contributing factor. We aim to understand whether people react differently to cleft and non-cleft subjects in questions regarding aesthetic appraisal and interpersonal impressions, as well as whether diverging opinions exist between people of different backgrounds. Materials and MethodsUsing the 3dMD system, three-dimensional craniofacial images of cleft (n=20) and non-cleft (n=5) pediatric individuals were obtained and used to create a Likert scale-based questionnaire. Participants from three different backgrounds, including adolescent peers, adult laypersons, and plastic surgeons, were recruited to complete the assessment. The resulting data was transferred to a bar graph and analyzed with the Item Response Theory- Graded Response Model to estimate the latent traits and capability of each subject. ResultsNon-cleft images obtained more positive responses than cleft images in questions of both aesthetic appraisal and interpersonal impressions. However, some of the cleft images were rated similarly, or even superior, to non-cleft images in questions regarding interpersonal impressions. Surgeons showed the greatest latent capability in differentiating between cleft and non-cleft images, followed by adult laypersons, and then adolescent peers. ConclusionDespite cleft patients experiencing drastic improvements in appearance post-repair, all subject groups responded differently to questions concerning aesthetic and social impressions of pediatric cleft and non-cleft images. Plastic surgeons were more critical than others. These findings may offer further insight to clinicians, educators, and caregivers into the social challenges faced by cleft individuals.

Evaluation of Cervical Spine Curvature and its Relation with Cranial Base in Class I, Cleft and Class III Malocclusion Individuals: A Cross-sectional Analysis

Introduction: According to the literature, an existing correlation is said to be present between craniocervical and craniofacial morphology. Recent studies have revealed that there are certain variations among the different forms of craniofacial patterns with respect to the morphology of the vertebrae. Since there are very few studies comparing the curvature of the cervical column in relation to the cranial base in Cleft, Class-I and ClassIII individuals, this study was carried out. Aim: To provide a comprehensive comparative analysis of the curvature of the cervical vertebral column and its relationship with the cranial base in Class-I, cleft, and Class-III individuals within the Central Indian population. Materials and Methods: In this cross-sectional study conducted at the Department of Orthodontics and Dentofacial Orthopaedics at Sharad Pawar Dental College and Hospital, Sawangi (M).Wardha, Maharashtra, India, patients with skeletal Class-I, Class-III, and Unilateral Cleft Lip and Palate (UCLP) or Bilateral Cleft Lip and Palate (BCLP) in the Central India region were included. The study duration was eight months, from April 2022 to January 2023. The research involves a meticulous examination of 90 individuals, divided into three groups: Class-I individuals (n=30), cleft individuals (n=30), and ClassIII individuals (n=30). A comprehensive set of radiographic and cephalometric measurements will be employed to assess cervical vertebral curvature. One-way Analysis of Variance (ANOVA) test was used for analysis. Results: With the exception of Sella-Nasion to Gonion Gnathion (SA-Go-Gn), where the p-value was 0.13, a statistically significant difference between Class-I and Class-III was seen for all angles. For Class-III cases with clefts, every angle revealed a statistically significant difference. Except for SN-Go-Gn (p=0.65), all of the angles revealed a statistically significant difference when compared to Class-I with Cleft, with a p-value <0.05. Conclusion: The modified curvature angle utilised in the present study facilitated the assessment of cervical curvature in Cleft, Class-I, and Class-III malocclusions, revealing differences in skeletal sagittal jaw relations, particularly in their cervical positions, as indicated by the study findings. Participants in skeletal Class-III had significantly straighter cervical columns than participants in skeletal Class-I. A significant difference between the maxillary base, mandibular base, and the midsection of the spinal column was seen between all three groups.

Age at primary surgery among orofacial cleft individuals in Indonesia.

To observe the age at primary cleft surgery among charity organizations such as Smile Train in helping Indonesia manage patients with OFC. A retrospective analysis of medical records was conducted to identify patients with orofacial clefts who underwent primary surgery between 2001 and 2021. The age at the time of surgery was recorded for each patient. Descriptive statistics were used to analyse the data and determine the average age at primary surgery. In the period between 2001 and 2021, a total of 34 239 individuals in Indonesia underwent primary lip surgery, while 16 768 individuals received primary palatal surgery, as recorded in the Smile Train database. Notably, a significant proportion of these surgeries were classified as delayed primary repairs. Approximately 65.3% of primary lip surgeries were performed beyond the recommended timeline of 6 months of age, indicating a delay in the surgical intervention. Similarly, 67% of primary palatal surgeries were also delayed, occurring after the recommended timeline of 18 months of life. This study provides insights into the age at primary surgery among individuals with orofacial clefts in Indonesia. The findings highlight the need for timely intervention and the importance of considering individualized treatment plans based on the specific type of orofacial cleft. Further research is warranted to explore factors influencing the age at primary surgery and their impact on treatment outcomes and long-term functional outcomes in this population.

English

BACKGROUND Cleft individuals have a significant altered growth of the craniofacial structures since birth. The treatments available for infants are mostly associated with controversies regarding timing of initiation, types & timing in surgery, grafting etc. Maxilla is affected in all three dimensions; due to surgery alone or in conjugation with the infant orthopaedics, intrinsic growth retardation or combination of all. Considering the current conflict over the use of pre-surgical nasoalveolar molding (PNAM) and to evaluate the efficacy of PNAM technique, this postdoctoral research was done to compare the maxillary palatal volume in unilateral cleft lip and palate (UCLP) cases treated with and without PNAM as compared to non-cleft individuals. METHODS This is an observational cross-sectional study. The palate alveolar volume was assessed and analysed using 3D-DVT angiography machine. RESULTS There was significant difference between cleft group and non-cleft individuals. The cases treated with PNAM had lesser palatal volume. CONCLUSIONS Restrictive effect on maxilla was evident in PNAM cases, but this altered growth could also be an amalgamation of numerous factors like surgery, infant orthopaedics, and intrinsic growth. Therefore, judicious use, current concepts, and biomechanics of PNAM is the need of an hour. KEY WORDS Maxillary Palatal Volume, Unilateral Cleft Cases, Presurgical Naso-Alveolar Molding, 3D-DVT

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

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.

Evaluation of Sella Turcica Bridging and Morphology in Different Types of Cleft Patients.

ObjectivesTo evaluate sella turcica (ST) bridging, associated anomalies, and morphology, in subjects with four different types of clefts, and compare them with non-cleft (NC) subjects.Materials and MethodsA total of 123 (31 NC and 92 cleft) Saudi subjects who had their lateral cephalogram (Late. Ceph.), orthopantomogram (OPG), and clinical details for ordinary diagnosis were included in the study. Among 92 cleft subjects, 29 had bilateral cleft lip and palate (BCLP), 41 had unilateral cleft lip and palate (UCLP), nine had unilateral cleft lip and alveolus (UCLA), and 13 with unilateral cleft lip (UCL). ST bridging and seven parameters related to ST morphology and skeletal malocclusion were analyzed using Late. Ceph. Associated dental anomalies in ST bridging subjects were investigated using OPG. The images were investigated using artificial intelligence driven Webceph software. Multiple statistical tests were applied to see the differences between gender and among cleft vs NC subjects.ResultsST bridging was found to be higher in cleft subjects (22.82%). Most of the cleft subjects had severe skeletal Class III malocclusion associated with multiple types of dental anomalies (impacted canines, congenital missing, and presence of supernumerary teeth). No significant gender disparities in all seven parameters of ST morphology were found between NC and cleft groups. However, there were significant differences when compared among four different types of cleft individuals vs NC subjects.ConclusionST bridging is more prevalent in cleft subjects along with Class III malocclusion and associated dental anomalies. ST morphometry differs significantly between cleft vs NC subjects. BCLP exhibits smaller values of all seven parameters as compared to all other groups.

The morphology of sella turcica in cleft and non-cleft individuals

Aims and ObjectivesThe aim of the study was to analyze the morphology and expedient the linear dimensions of Sella Turcica among cleft and non-cleft Indian individuals, and then to determine whether differences exist between different study groups. Materials and methodsThe lateral cephalogram of 300 patients (150 cleft and 150 non-cleft), aged 18 to 30 years who reported for various treatments of malocclusions were studied. ResultThe normal morphology of the sella turcica were seen in 85 of the 150 non-cleft individuals which was highest (56.66%) in the non-cleft group, however in the cleft group it was seen in only 16 of the 150 individuals (10.6%). Sella turcica bridge were seen in 10% of the non-cleft subjects, whereas in the cleft group it was seen in 38% of the individuals. A significant difference was seen in the linear measurements of the sella turcica of cleft and no-cleft individuals. ConclusionThe normal morphology of the sella turcica was seen in the majority of the non-cleft individuals. The cleft individuals showed an increased incidence of sella turcica bridging with reduced linear measurements of the sella as compared to the non-cleft individuals.

Tooth Abnormalities In Individuals With Unilateral Alveolar Clefts: A Comparison Between Sides Using Cone-Beam Computed Tomography.

BackgroundTooth abnormalities are most often present in individuals with oral clefts than general population, and lead to a long-term impact on facial anatomy and self-esteem. The purpose of this study was to compare the proportion of dental anomalies between the cleft side and non-cleft side in individuals with non-syndromic unilateral alveolar clefts (AC).Material and MethodsTwenty cone beam computed tomography (CBCT) scans were converted into three-dimensional (3D) virtual models. The dental anomalies considered were: tooth agenesis; supernumerary teeth; giroversion; and microdontia. Statistical analysis was performed using the McNemar’s test and Fisher’s exact test (p<0.05).ResultsStatistically significant differences were not found either between the prevalence of individuals with dental abnormalities on the non-cleft side and the sides of the AC (p = 1.00), or sex (p = 0.36). Tooth agenesis was the most prevalent dental anomaly (55.6%). On the cleft side the lateral incisor was tooth most involved by dental anomalies; and the second premolar was the most affected on the non-cleft side.ConclusionsThis study showed a high frequency of dental anomalies in the cleft individuals and indicated that the side of AC and sex do not interfere in the proportion of dental anomalies on non-cleft side. Key words:Cone beam computed tomography, Hypodontia, Tooth abnormalities.

Three-Dimensional Evaluation of Pharyngeal Airway in Complete Unilateral Cleft Individuals and Normally Growing Individuals Using Cone Beam Computed Tomography

The aim of the present study was to evaluate pharyngeal airway in cleft individuals and normally growing individuals using cone beam computed tomography. Cone beam computed tomography scans of 22 individuals were obtained from the Department of Orthodontics and divided in two groups. Group 1 includes 11 cases with complete unilateral cleft lip and palate (mean age, 12 years) and group 2 includes 11 noncleft cases (mean age, 14 years). The oropharyngeal, nasopharyngeal, and oronasal pharyngeal airway was evaluated between the two groups. In the cleft group, the volume of the nasopharyngeal airway was found to be 3.66 cm(3); of the oropharyngeal airway, 9.28 cm(3); and of the oronasal pharyngeal airway, 12.67 cm(3). The volume of the nasopharyngeal airway was found to be significantly reduced in the cleft palate group when compared with the noncleft group. The nasopharyngeal airway was found to be significantly smaller among the children with cleft palate than among those in the control group.

Non-syndromic oral clefts and risk of cancer: a systematic review

Objective: To discuss the risk of cancer among relatives of individuals with cleft lip and palate (CL/P), as well as the risk of CL/P among relatives of individuals with cancer, since studies published currently have suggested an increased risk of cancer among relatives of cleft individuals. Design: A systematic literature review was carried out in accordance with the Cochrane Collaboration Group protocol, including literature search strategy, selection of papers through the inclusion and exclusion criteria, data extraction and quality assessment. PubMed, Scopus and ISI - Web of Science databases were systematically searched using the fallowing search strings: “cleft lip and palate” AND “cancer”, “oral clefts” AND “cancer” and “orofacial clefts” AND “cancer”. Results: From 653 studies accessed, 8 comprised the final sample: 6 investigating CL/P index cases and their family history of cancer and 2 investigating individuals with cancer and their family history for CL/P. The sample sizes were not homogeneous. Oral clefts, the type of cancer and the degree of kinship family were not categorized in all studies. Leukemia, breast cancer and colon cancer were the most cited types, even as first-and-second degree relatives. Conclusions: An increased risk of cancer among relatives of cleft individuals could not be entirely confirmed. However, studies with this specific purpose suggest that first-and-second degrees relatives of cleft individuals have some types of cancer more often than unexposed families, highlighting that future studies should expand their samples to investigate possible common molecular mechanisms that allow relating oral clefts and cancer.

Frequency of Surgical Correction for Maxillary Hypoplasia in Cleft Lip and Palate

The aim of this study was to determine the frequency of surgical correction of maxillary hypoplasia in individuals with nonsyndromic cleft lip and/or palate (CL/P) treated at the Center for Craniofacial Anomalies at University of California, San Francisco (UCSF). This is a retrospective cohort study of individuals with cleft lip and/or palate born between 1970 and 1990 who were treated at the UCSF Center for Craniofacial Anomalies. Data were gathered from the UCSF Craniofacial Anomalies Filemaker Pro database. From the database, we collected the following information: age, gender, cleft type, date of orthognathic surgery, and type of osteotomy. The subjects were further subcategorized by cleft type and gender. A total of 973 individuals with a diagnosis of cleft lip and/or palate were reviewed: 325 subjects had an associated syndrome and 648 were nonsyndromic. A total of 59 of these 648 nonsyndromic cleft individuals (9.1%) required surgical intervention for correction of maxillary hypoplasia: 2/105 (1.9%) for cleft lip, 4/122 (3.3%) for cleft palate, 35/286 (12.2%) for unilateral cleft lip and palate, and 18/135 (13.3%) for bilateral cleft lip and palate. The frequency of surgical correction for maxillary hypoplasia in cleft individuals at UCSF Center for Craniofacial Anomalies at 9% was lower than the reported average of 25%.

ORAL AND CRANIOFACIAL CHARACTERISTICS OF UNTREATED ADULT UNILATERAL CLEFT LIP AND PALATE INDIVIDUALS

Abstract Introduction: Cleft lip and palate anomaly being the common congenital defect having significant effects on the facial morphology, function and growth and development of the individual, requires a detailed study of the Dental and craniofacial characteristics. Design and setting: The study is conducted in a hospital set up and the subjects were selected at random as per the inclusion criterion. Objectiveof study was to evaluate the craniofacial and Dental morphology in untreated unilateral cleft lip and palate (UCLP) individuals. Materials and Methods: A total of 64 individuals in the age group of 15-28 yrs were selected and grouped in to two groups; Cleft group consisting of 13 males and 19 females having untreated UCLP and another group of 16 male and 16female non cleft individuals. Study cast, lateral cephalogram and frontal cephalogram analysis were carried out .The obtained data were analyzed using ANOVA to compare the values between the groups. Result: Significant differences in cranio- facial characteristics were noted between the cleft and non cleft individuals. These differences were more pronounced in sagittal plane and less in transverse plane. Conclusion: Significant differences exist in the cranio- facial morphology between the untreated UCLP individuals and non cleft individuals.

A Co-relative Study of Dento-skeletal, Oro-pharyngeal Patterns and Speech Performance in Cleft Lip and/or Cleft Palate Anomaly

The study was conducted on twenty cleft lip (CL)/cleft lip and palate (CLP) patients in age group of 10 to 23 yrs.The severity of the cleft ranged from simple alveolar cleft to complete bilateral cleft of lip and palate. Impressions and lateral cephalograms were taken to evaluate the dento-skeletal and oro-pharyngeal form. The speech performance of each individual was recorded and assessed for nasality and misarticulation. Based on speech assessment, the cleft sample was further divided into subgroups. It was seen that all the cleft individuals demonstrated some degree of nasality and misarticulation, however the severity of the speech defects did not co-relate with the deviations in dento-skeletal and oro-pharyngeal form.

Descriptive study of management of palatal fistula in one hundred and ninety-four cleft individuals

Objective:Palatal fistula is a significant complication following cleft palate repair. The guidelines of management of the palatal fistula is dependent on the type of cleft, site of fistula, condition of surrounding tissue and associated problem. We studied the management and outcome of 194 cleft palate fistula in our institute.Design:We present the descriptive hospital-based study of management of palatal fistula in 194 cleft patients. We have excluded all the syndromic children and children whose anterior palate was not operated as per protocol.Settings:Of 194 cleft palate fistula, 37 had palate repair in our hospital and 157 were refereed with fistula following palate repair.The patients were evaluated by interdisciplinary team and plan of management was decided.Result:Various parameters like types of cleft, site of fistula and management of fistula were studied in all the patients. Fifty-two percent were in unilateral CLP and 30% in bilateral CLP because unilateral CLP is the commonest type of cleft. Postalveolar and hard palate region contributing to 67% of all fistulae, followed by junctional in (9%). Seventy-two percent of fistula were amenable for repair by local available tissue, 28% needed tongue flap due to shortage of tissue. Minor numbers have failure of procedure for fistula closure needing further management.Conclusions:This descriptive study present analysis of management of fistula in our institute. It also reinforces that patient with bilateral cleft lip and palate more likely to have shortage of local tissue needing the local flaps like tongue flap compare to other cleft types. The surgical management of fistula can be combined to tackle the associated problems.

Descriptive study of management of palatal fistula in one hundred and ninety-four cleft individuals

ABSTRACT Objective: Palatal fistula is a significant complication following cleft palate repair. The guidelines of management of the palatal fistula is dependent on the type of cleft, site of fistula, condition of surrounding tissue and associated problem. We studied the management and outcome of 194 cleft palate fistula in our institute. Design: We present the descriptive hospital-based study of management of palatal fistula in 194 cleft patients. We have excluded all the syndromic children and children whose anterior palate was not operated as per protocol. Settings: Of 194 cleft palate fistula, 37 had palate repair in our hospital and 157 were refereed with fistula following palate repair. The patients were evaluated by interdisciplinary team and plan of management was decided. Result: Various parameters like types of cleft, site of fistula and management of fistula were studied in all the patients. Fifty-two percent were in unilateral CLP and 30% in bilateral CLP because unilateral CLP is the commonest type of cleft. Postalveolar and hard palate region contributing to 67% of all fistulae, followed by junctional in (9%). Seventy-two percent of fistula were amenable for repair by local available tissue, 28% needed tongue flap due to shortage of tissue. Minor numbers have failure of procedure for fistula closure needing further management. Conclusions: This descriptive study present analysis of management of fistula in our institute. It also reinforces that patient with bilateral cleft lip and palate more likely to have shortage of local tissue needing the local flaps like tongue flap compare to other cleft types. The surgical management of fistula can be combined to tackle the associated problems.

Prevalência da Fissura de Úvula em Familiares de Fissurados Lábio-Palatinos

The goal of this study was to verify if the prevalence of cleft uvula is higher in families of cleft palate individuals than in the general population. The study group was composed of 136 relatives of cleft individuals and the control group was composed of 287 individuals without family history of cleft palate. The methodology consisted of oral examination by two examiners, with depression of the tongue to elicit the vomit reflex and air jets to define the cleft extension according to Meskin’s classification. The results showed that the study group presented a 2,9:100 prevalence of cleft uvula being all classified as partial 25% of extension and the control group showed a prevalence of 2,4:100, with higher occurrence of partial 25% of extension. In conclusion, the cleft uvula does not prevail in relatives of cleft palate individuals in relation to the general population, there is no sex correlation and the cleft uvula classified as partial 25% of extension has higher incidence.

Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, that is, individuals with CL/P, their relatives, and unrelated controls-from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S. sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% vs. 2.3%; P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data.

AXIN2andCDH1polymorphisms, tooth agenesis, and oral clefts

AXIN2 and CDH1 genes play important roles during craniofacial morphogenesis. Mutations in these genes have been described in families presenting colorectal cancer and tooth agenesis, and gastric cancer and cleft lip/palate (CL/P). Oral clefts have been associated with tooth agenesis. We investigated if AXIN2 and CDH1 polymorphisms were associated with clefts or with any associated dental subphenotypes. Markers in AXIN2 and CDH1 were genotyped using Taqman chemistry in a sample cohort comprised of 500 cleft individuals and 500 unrelated controls. Comparison between cleft and control groups showed a trend for association for AXIN2 with incomplete cleft palate (p = .006) and CDH1 with unilateral CL/P (p = .03 for left CL/P and p = .04 for right CL/P). Comparison of cleft subphenotypes with tooth agenesis and controls revealed borderline associations for CDH1 (p = .008) and AXIN2 (p = .01) with unilateral right CL/P with tooth agenesis. We observed only borderline results for the association of AXIN2 and CDH1 with CL/P with and without tooth agenesis. Nevertheless, implication of these genes in the simultaneous occurrence of CL/P and cancer, and in tooth agenesis and cancer, is rather intriguing and warrants further investigations with other geographic and ethnic populations.

Dental Anomalies as Part of the Cleft Spectrum

The aim of this study was to determine subphenotypes of clefts based on tooth development. Dental phenotypes (tooth agenesis, supernumerary and impacted teeth, transposition, and structural anomalies) outside the cleft area in the permanent dentition of oral cleft individuals were investigated. Evaluation of dental records of cleft patients. National Museum of Health and Medicine, Washington, D.C. A collection of dental casts, radiographic and clinical records of 146 patients with oral clefts was evaluated. Association of dental anomalies with preferential subtypes of clefts. Forty-seven individuals (32.19%) presented at least one dental anomaly outside the cleft area. Individuals with complete cleft lip and palate (CLP) presented more dental anomalies than individuals with incomplete CLP (p = .04). Cleft palate individuals presented more dental anomalies than CLP individuals (p = .048). Maxillary lateral incisors and premolars were the most affected teeth. High incidence of maxillary second premolar agenesis was observed in individuals with bilateral CLP (p = .04). In cases with unilateral CLP, 12.5% presented dental anomalies of the maxillary lateral incisors on the noncleft side. Cleft palate individuals presented a high incidence of mandibular premolar anomalies (p = .004). Future studies should consider the inclusion of a complete dental description to aid in the definition of cleft subphenotypes to be studied.

Hypoplasia and Hypodontia in Van der Woude Syndrome

The purpose of this study was (1) to assess maxillary development in cleft individuals with Van der Woude syndrome (VWS) and (2) to compare hypodontia in VWS and nonsyndromic cleft matched controls. Retrospective case-control study from the Center for Craniofacial Anomalies, University of California, San Francisco, California. The sample consisted of 15 individuals with Van der Woude syndrome and 15 nonsyndromic cleft lip and/or palate controls paired for age, gender, and cleft type in the age range of 5 to 13 years. Cephalograms were digitized, and 31 linear and angular measurements were made. Serial panoramic radiographs were used to assess the presence or absence of permanent teeth. The maxillary sagittal position represented by midface length (Co-A) was significantly shorter in the Van der Woude syndrome subjects than in the matched controls (p = .031), suggesting a trend towards greater maxillary hypoplasia, particularly in Van der Woude syndrome with bilateral cleft lip and/ or palate. Measurements indicating sagittal jaw relationship (ANB angle and the Wits) were significantly smaller in the children with Van der Woude syndrome than in matched controls (p = .008 and p = .006). A significantly larger number of individuals with Van der Woude syndrome than matched controls had missing teeth (p = .014). The mandibular second premolar was missing more frequently in children with Van der Woude syndrome than in the matched controls (p = .031). The differences concerning both maxillary hypoplasia and hypodontia were most marked in the more severe cleft type, represented by bilateral cleft lip and/or palate. Based on these findings, the expectation is that there will be maxillary hypoplasia and hypodontia of greater severity in Van der Woude syndrome than in nonsyndromic clefts.