Systemic and oral abnormalities in Kabuki syndrome: a case series.

OBJECTIVE: This study analyzed the systemic and oral abnormalities in individuals with Kabuki syndrome (KS) that might be investigated to enhance the early diagnosis and treatment by a multidisciplinary team, minimizing the consequences to the individual's health. STUDY DESIGN: Clinical examination was conducted on 15 individuals to investigate orodental alterations such as tooth abnormalities and cleft lip and/or palate, and the patient records were also reviewed to investigate systemic diseases such as cardiopathies, infectious and immunologic diseases, nephropathies, and delayed neuropsychomotor development. RESULTS: All individuals with KS presented cleft lip and/or palate, 11 (73.34%) tooth abnormalities, 5 (33.34%) congenital cardiopathies, 12 (80%) infectious or immunologic diseases, 1 (6.67%) nephropathy, and 14 (93.34%) had an intellectual disability. CONCLUSION: Individuals with KS often have dental anomalies such as hypodontia, cleft or palate, and systemic disorders such as congenital heart disease and infectious diseases. Intellectual disability is present in most cases. These alterations should be investigated as early as possible to prevent the increase in morbidity in these individuals.

Does Infant Orthopedics and Neonate Lip Surgery Influence the Occlusal Relationship in Patients With Unilateral Cleft Lip and Palate (UCLP)?

OBJECTIVE: To compare occlusal relationship in patients undergoing neonate versus conventional lip surgery (LS) with and without infant orthopedics (IO) by assessment of dental arch relationship in individuals with complete unilateral cleft lip and palate. MATERIAL AND METHODS: Three groups treated by different protocols; Group I: neonate LS (1-15 days) + IO and palatoplasty (13-31 months); Group II: LS (3-12 months) + IO and palatoplasty (15-35 months); and Group III: LS (3-6 months) without IO and palatoplasty (12-18 months). The 112 intraoral photographs of individuals of all groups, obtained between 6 and 12 years of age, were assessed by the occlusal index for intraoral photograph rating. The groups were compared by the χ2 test. The correlation between surgical timing and the scores was tested by the Spearman test (P < .05). RESULTS: Group I presented the highest percentage of score 5, group II exhibited highest percentage of score 1, and group III presented the lowest percentage of score 5 according to the χ2 test (P = .029). The Spearman correlation test revealed statistically significant difference between timing of LS and the occlusal index. The earlier the surgical timing, the higher the occlusal index (P = .019). CONCLUSIONS: Infant orthopedics has demonstrated the possibility of postponing primary plastic surgeries. Patients submitted to late lip and palate repair had the best prognosis, while patients undergoing lip repair from 1 to 15 days of life, even operating the palate later, had the worst prognosis. Neonate LS negatively influenced the occlusal relationships.

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

CONTEXT: The reproductive axis is controlled by a network of gonadotropin-releasing hormone (GnRH) neurons born in the primitive nose that migrate to the hypothalamus alongside axons of the olfactory system. The observation that congenital anosmia (inability to smell) is often associated with GnRH deficiency in humans led to the prevailing view that GnRH neurons depend on olfactory structures to reach the brain, but this hypothesis has not been confirmed. OBJECTIVE: The objective of this work is to determine the potential for normal reproductive function in the setting of completely absent internal and external olfactory structures. METHODS: We conducted comprehensive phenotyping studies in 11 patients with congenital arhinia. These studies were augmented by review of medical records and study questionnaires in another 40 international patients. RESULTS: All male patients demonstrated clinical and/or biochemical signs of GnRH deficiency, and the 5 men studied in person had no luteinizing hormone (LH) pulses, suggesting absent GnRH activity. The 6 women studied in person also had apulsatile LH profiles, yet 3 had spontaneous breast development and 2 women (studied from afar) had normal breast development and menstrual cycles, suggesting a fully intact reproductive axis. Administration of pulsatile GnRH to 2 GnRH-deficient patients revealed normal pituitary responsiveness but gonadal failure in the male patient. CONCLUSIONS: Patients with arhinia teach us that the GnRH neuron, a key gatekeeper of the reproductive axis, is associated with but may not depend on olfactory structures for normal migration and function, and more broadly, illustrate the power of extreme human phenotypes in answering fundamental questions about human embryology.

Outcomes of Alveolar Graft With Rhbmp-2 in CLP: Influence of Cleft Type and Width, Canine Eruption, and Surgeon.

OBJECTIVE: To evaluate the influence of cleft type and width, canine eruption stage, and surgeon on the outcomes of alveolar graft with rhBMP-2. DESIGN: Cross-sectional. SETTING: Tertiary craniofacial center. PARTICIPANTS: Ninety individuals submitted to alveolar graft in late mixed or early permanent dentition. INTERVENTIONS: The 90 individuals (mean age: 16.8 years) were submitted to alveolar graft with rhBMP-2. Periapical radiographs were obtained before and 6 months after surgery. Surgeries were performed by 4 experienced maxillofacial surgeons. The alveolar grafts were assigned as success or failure by 3 blinded raters based on the modified Bergland and Chelsea scales. Permanent canines adjacent to the defect were assigned as erupted and not erupted. The greatest cleft width was measured on preoperative periapical radiographs. MAIN OUTCOME MEASURES: The influence of 4 independent variables (cleft type, cleft width, canine eruption phase, and surgeon) on the outcome of alveolar graft was analyzed by multivariate logistic regression ( P < .05). RESULTS: All independent variables presented significant influence on alveolar graft outcome. The subgroup of unerupted maxillary canines demonstrated better outcomes than erupted canines ( P = .001). The group with cleft lip and alveolus (CL/A) demonstrated better outcomes than complete cleft lip and palate (CLP; P < .001). The greater the alveolar cleft width, the less favorable were the graft outcomes ( P = .027). The surgeon also had a significant influence on the surgery success ( P = .003 and .001). CONCLUSION: The type and width of CLP, the eruption of permanent canines, and the surgeon influenced the outcome of alveolar graft surgeries performed with rhBMP-2.

Effect of Low-Level Laser on the Healing of Bone Defects Filled with Autogenous Bone or Bioactive Glass: In Vivo Study.

PURPOSE: This study evaluated the effect of low-level laser therapy (LLLT) on the healing of bone defects filled with autogenous bone or bioactive glass. MATERIALS AND METHODS: A critical size defect with 5-mm diameter was created on the calvaria of 60 adult male rats divided into 6 groups (n = 10): group C (control), group LLLT (LLLT - GaAlAs, wavelength of 780 nm, power of 100 mW, energy density of 210 J/cm2 per point during 60 seconds/point, in five points, only once, after creation of the surgical defect), group AB (autogenous bone), group AB+LLLT (autogenous bone + LLLT), group BG (bioactive glass), group BG+LLLT (bioactive glass + LLLT). All animals were sacrificed at 30 days after surgery. The areas of newly formed bone (ANFB) and areas of remaining particles (ARP) were calculated in relation to the total area (TA). RESULTS: The highest mean ± SD ANFB was observed for group LLLT (47.67% ± 8.66%), followed by groups AB+LLLT (30.98% ± 16.59%) and BG+LLLT (31.13% ± 16.98%). There was a statistically significant difference in relation to ANFB between group C and the other groups, except for comparison with group BG (Tukey test, P > .05). There was no statistically significant difference in ANFB values between group AB and the other study groups (Tukey test, P > .05), group AB+LLLT and groups BG and BG+LLLT (Tukey test, P > .05), and between groups BG and BG+LLLT (Tukey test, P > .05). The highest mean ± SD ARP was found for group BG (25.15% ± 4.82%), followed by group BG+LLLT (17.06% ± 9.01%), and there was no significant difference between groups (t test, P > .05). CONCLUSION: The LLLT, in the present application protocol, did not increase the area of new bone formation when associated with autogenous bone or bioactive glass.

Tooth Abnormalities and Occlusal Disorders in Individuals With Frontonasal Dysplasia.

OBJECTIVE: Frontonasal dysplasia is a rare developmental defect of the midface, and little is known about the dental involvement in individuals with this condition. This study investigated tooth abnormalities and occlusal disorders in individuals with frontonasal dysplasia. DESIGN: Cross-sectional. SETTING: Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. INTERVENTIONS: Clinical oral examination, analysis of patient records, and panoramic radiographs. PARTICIPANTS: A total of 20 individuals with frontonasal dysplasia aged 7 to 17 years. MAIN OUTCOME MEASURES: Prevalence of the several tooth abnormalities and occlusal disorders analyzed. RESULTS: A total of 19 individuals presented at least one tooth abnormality, with highly variable findings. In radiographs, 20% of individuals (all presenting oral clefts) presented agenesis of lateral incisors and second premolars. No supernumerary teeth were observed; 65% of individuals exhibited occlusal alterations, especially anterior open bite in the two individuals with median cleft lip. CONCLUSIONS: Variable clinical and radiographic alterations were observed, probably due to the large variety of phenotypic characteristics. No specific dental alteration could be related with frontonasal dysplasia.

Evolution of Postoperative Edema in Alveolar Graft Performed With Bone Morphogenetic Protein (rhBMP-2).

OBJECTIVE: To evaluate the evolution of facial edema in the postoperative period after alveolar graft surgeries performed with collagen membrane soaked with recombinant human bone morphogenetic protein-2 (rhBMP-2) in individuals with cleft lip and palate. DESIGN: Longitudinal prospective. SETTING: Tertiary craniofacial center. PARTICIPANTS: One hundred fifty individuals submitted to alveolar graft. INTERVENTIONS: In the preoperative consultation and 4 days after surgery, the individuals were assessed as to age, professional performing the surgery, duration of the procedure, type of cleft, measurement of facial edema, mouth opening, and global evaluation of the postoperative period. MAIN OUTCOME MEASURES: Statistical analysis was performed to compare the facial edema and different variables, at a significance level of .05. RESULTS: The maximum facial edema occurred between 3 and 4 days postoperatively, was inversely proportional to age and mouth opening, greater for female patients compared with male patients, for incomplete unilateral cleft lip and palate compared with other types of clefts, and for surgeon 1 compared with the other surgeons at some moment postoperatively. The surgeries were longer for complete unilateral and bilateral clefts. The difference was statistically significant for these variables. CONCLUSIONS: The facial edema was influenced by the rhBMP-2 used in alveolar graft, and trismus was proportional to the intensity of facial edema.

Enamel defects in permanent first molars and incisors in individuals with cleft lip and/or palate / Defectos de esmalte en primeros molares e incisivos en individuos con fisura labial y/o palatina

Background. Enamel defects are common in deciduous and permanent maxillary incisors of individuals with lip and palate cleft, and their occurrence has been associated with the cleft, especially when the alveolus is affected. Objective. To compare the prevalence of enamel defects in permanent maxillary and mandibular central incisors and first molars of individuals with cleft lip and palate, cleft palate, and without clefts. Materials and methods. The study analyzed the case of 150 individuals -50 with cleft lip and palate, 50 with cleft palate and 50 without clefts-, of both genders and aged 6 to 12 years. The frequency, extent, and location of enamel alterations on the buccal aspect of teeth were evaluated by the modified DDE index. Results. There was a greater manifestation of enamel defects in maxillary incisors and molars in groups with clefts, with statistically significant difference compared with the noncleft group. Conclusions. The occurrence of enamel defects was common in permanent incisors and molars and was significantly associated with clefts.

Antecedentes. Los defectos de esmalte son comunes en los incisivos superiores deciduos y permanentes de individuos con fisura de labio y paladar; su ocurrencia ha sido asociada con la fisura, especialmente cuando el alveolo es afectado. Objetivo. Comparar la prevalencia de defectos de esmalte en incisivos centrales y primeros molares superiores e inferiores permanentes de individuos con fisura labiopalatina, fisura palatina y sin fisura. Materiales y métodos. El estudio analizó el caso de 150 individuos -50 con fisura labiopalatina, 50 con fisura palatina y 50 sin fisura- de ambos géneros entre 6 y 12 años. La frecuencia, extensión y localización de las alteraciones de esmalte en la superficie vestibular de los dientes fue evaluado por el índice DDE modificado. Resultados. Hubo mayor manifestación de defectos de esmalte en incisivos y molares superiores en los grupos con fisuras, con diferencia estadística significativa comparada con el grupo sin fisura. Conclusiones. La ocurrencia de defectos de esmalte fue común en incisivos y molares permanentes y estuvo significativamente asociada a las fisuras.

Prevalence, cause, and location of palatal fistula in operated complete unilateral cleft lip and palate: retrospective study.

OBJECTIVE: To evaluate the prevalence of fistulas after palate repair and analyze their location and association with possible causal factors. DESIGN: Retrospective analysis of patient records and evaluation of preoperative initial photographs. SETTING: Tertiary craniofacial center. PARTICIPANTS: Five hundred eighty-nine individuals with complete unilateral cleft lip and palate that underwent palate repair at the age of 12 to 36 months by the von Langenbeck technique, in a single stage, by the plastic surgery team of the hospital, from January 2003 to July 2007. INTERVENTIONS: The cleft width was visually classified by a single examiner as narrow, regular, or wide. The following regions of the palate were considered for the location: anterior, medium, transition (between hard and soft palate), and soft palate. MAIN OUTCOME MEASURES: Descriptive statistics and analysis of association between the occurrence of fistula and the different parameters were evaluated. RESULTS: Palatal fistulas were observed in 27% of the sample, with a greater proportion at the anterior region (37.11%). The chi-square statistical test revealed statistically significant association (P ≤ .05) between the fistulas and initial cleft width (P = .0003), intraoperative problems (P = .0037), and postoperative problems (P = .00002). CONCLUSIONS: The prevalence of palatal fistula was similar to mean values reported in the literature. Analysis of causal factors showed a positive association between palatal fistulas with wide and regular initial cleft width and intraoperative and postoperative problems. The anterior region presented the greatest occurrence of fistulas.

Prevalence of oral habits in children with cleft lip and palate.

This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts) were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (P < 0.05). There was no significant association between oral habits and presence of fistulae (P > 0.05). The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae.

Evaluation of fecal microorganisms of children with cleft palate before and after palatoplasty.

This study isolated and quantified intestinal bacteria of children with cleft palate before and after palatoplasty. A prospective study was conducted from May 2007 to September 2008 on 18 children with cleft palate, aged one to four years, of both genders, attending a tertiary cleft center in Brazil for palatoplasty, to analyze the effect of surgical palate repair on the concentration of anaerobes Bacteroides sp, Bifidobacterium sp and microaerophiles Lactobacillus sp in feces of infants with cleft palate before and 24 hours after treatment with cefazolin for palatoplasty. There was significant reduction of Lactobacillus sp (p < 0.002), Bacteroides sp (p < 0.001) and Bifidobacterium sp (p = 0.021) after palatoplasty, revealing that surgery and utilization of cefazolin significantly influenced the fecal microbiota comparing collections before and after surgery. However, due to study limitations, it was not possible to conclude that other isolated factors, such as surgical stress, anesthetics and other medications used in palatoplasty might have a significant influence on the microbiota. Considering the important participation of the intestinal microbiota on both local and systemic metabolic and immunological activities of the host, professionals should be attentive to the possible influence of these changes in patients submitted to cleft repair.

Dental anomalies in Richieri-Costa-Pereira syndrome.

OBJECTIVE: The objective of this study was to investigate the prevalence of dental anomalies in individuals with Richieri-Costa-Pereira syndrome. STUDY DESIGN: A total of 13 individuals with Richieri-Costa-Pereira syndrome who were older than 8 years with at least 1 available panoramic radiograph were assessed. Dental anomalies were evaluated clinically and radiographically and classified as hyperplastic, hypoplastic, or heterotopic and as alterations of shape, number, position, and structure. Enamel alterations were classified by the DDE index. RESULTS: All individuals exhibited anomalies, with predominance of hypoplastic disorders, mainly agenesis of mandibular incisors and second premolars and demarcated creamy-white enamel opacities primarily affecting the maxillary premolars. CONCLUSIONS: Individuals with Richieri-Costa Pereira syndrome exhibit high prevalence of tooth agenesis, especially mandibular incisors and premolars, as well as high frequency of enamel opacities. These findings are compatible with the mandibular cleft observed in all individuals and also reflect the hypoplastic characteristic of the syndrome.

Termination of pregnancy after prenatal diagnosis of cleft lip and palate--possible influence on reports of prevalence.

Elective termination of pregnancy is prohibited in many countries, even after prenatal diagnosis of oral clefts. Though some studies address registries on termination of pregnancy, many investigations include only livebirths. This may lead to underestimation of the overall occurrence of oral clefts, influencing their reported prevalence. This paper does not intend to discuss if termination of pregnancy because of the presence of an oral cleft is justifiable from ethical, moral, or religious standpoints. Rather, its main goal is to promote a reflection on how the prevalence of oral clefts has been addressed and to rethink the reported differences in prevalence. Authors publishing on the prevalence of oral clefts might indicate the regulations and practices on pregnancy termination in their countries, so that readers may have an idea of what is beyond those findings.

Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome.

OBJECTIVE: The objective of this study was to investigate the prevalence of tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. STUDY DESIGN: Twenty-six patients with velocardiofacial syndrome were examined to investigate the presence of tooth abnormalities and soft tissue alterations. The occurrence of tooth agenesis and supernumerary teeth was compared to patients without morphofunctional alterations, matched for gender and age. RESULTS: Of all patients, 76.92% exhibited at least one tooth abnormality, with predominance of hypoplastic alterations, especially represented by hypodevelopment of the lingual cusp of mandibular first premolars and enamel opacities. The occurrence of tooth agenesis and supernumerary teeth was similar in both study and control groups. CONCLUSION: the present results suggest an association between hypodevelopment of the lingual cusp of mandibular first premolars and enamel opacities, yet these findings still require corroboration. Future studies should further investigate these aspects in larger samples compared to control groups, as well as employing molecular genetics techniques.

Evaluation of sutures after immersion in nonalcoholic benzydamine hydrochloride mouthrinse by scanning electron microscopy.

This study evaluated the surface integrity of sutures after immersion in mouthrinse or water, by scanning electron microscopy (SEM) analysis. Pieces of resorbable suture remaining after oral surgery were immediately collected. Twelve pieces each of catgut, chromed catgut, and polyglactin 910 were divided into four groups and immersed in pure mouthrinse, mouthrinse diluted in water at 1:1 and 1:2, or water (positive control), for 24 h. Three pieces each of new sutures were used as negative control. Specimens were placed on stubs and sputter coated with gold for SEM analysis. Observation of experimental groups and comparison with controls revealed that immersion in the mouthrinse at different dilutions did not alter their surface; slight, nonsignificant changes were found in some experimental specimens yet also in the positive control group. It was concluded that immersion of resorbable sutures in water or non-alcoholic benzydamine hydrochloride mouthrinse did not produce any significant change; therefore, this mouthrinse may be safely employed after oral surgery.

Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome.

OBJECTIVE: To examine the prevalence of dental anomalies in the deciduous and permanent teeth, ectopic eruption of permanent first molars, and associated oral malformations in individuals with Treacher Collins syndrome. STUDY DESIGN: Clinical and radiographic examination of 15 patients with Treacher Collins syndrome, from the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo, not submitted to orthodontic or orthognathic treatment. RESULTS: Dental anomalies were present in 60% of the sample, with 1-8 anomalies per individual. Hypoplastic dental anomalies were the most common, followed by heterotopic and hyperplastic dental alterations. The most frequent anomalies were tooth agenesis (33.3%), mainly affecting the mandibular second premolars, and enamel opacities (20% of patients). Ectopic eruption of the maxillary first molars was found in 13.3% of subjects. Associated oral malformations, primarily isolated cleft palate, followed by complete cleft lip and palate and macrostomia, were observed in 66.7% of patients. CONCLUSIONS: Presence of cleft palate associated with the syndrome is in agreement with the literature. The high prevalence of dental anomalies suggests a possible etiologic relationship, not described in the literature so far, between such alterations and the Treacher Collins syndrome. Further investigations on larger samples are required to confirm these results.