Herencia de la anquiloglosia: de tal palo, tal astilla / Ankyloglossia inheritance: like father, like son

Se desconocen la patogenia de la anquiloglosia y la expresión mayor o menor del genotipo que la genera, porque puede presentarse con herencias de diversos tipos: ligada al cromosoma X, dominante y, en algún caso, recesiva. Se presentan cuatro familias con anquiloglosia en distintas generaciones, acompañando lactantes con problemas en la lactancia materna. En todos los casos existía un desconocimiento previo de esta situación en los pacientes y familiares. En nuestra consulta, se atendieron a 326 grupos de hermanos con anquiloglosia. En 133 de ellos no se hizo frenectomía a ninguno, en 96 grupos se intervino a uno de los hermanos, en 91 se intervino a los dos hermanos y en seis, a tres hermanos. Se encontró una prevalencia en hermanos del 44,9%. El infradiagnóstico de anquiloglosia está condicionado por el desconocimiento de algunas consecuencias de esta patología: malposición dentaria, alteraciones de la columna vertebral, trastornos en el habla, problemas respiratorios y apneas, entre otros. Se necesitan muestras amplias para estudiar los mecanismos de transmisión y aclarar la patogenia de esta malformación hereditaria, que afecta a más del 10% de la población

The pathogenesis of tongue tie and the major or minor expression of the genotype that causes it are not known because it can occur with inheritances X-linked dominant or, in some cases, recessive. Four families with tongue tie in different generations, accompanying infants with breastfeeding problems are presented. In all cases there was a lack of prior knowledge of this situation in patients and family members. In our medical office, 326 sibling groups were attended. In 133 of them, no frenectomy was performed, in 96 groups one of the brothers underwent surgery, in 91 the two brothers were operated and in 6, three brothers. Prevalence in siblings of 44.9% was found. The underdiagnosis of ankyloglossia is conditioned by the unawareness of some consequences of this pathology: dental malposition, alterations of the spine, speech disorders, respiratory problems and apnea, among others. Large samples are needed to study the transmission mechanisms and clarify the pathogenesis of this inherited malformation, which affects more than 10% of the population

Mutations in FGFR3 gene associated with maxillary retrognathism.

CONTEXT: Understanding the role of fibroblast growth factor receptor (FGFR) in the regulation of bone development and disease will ultimately lead to better prevention and treatment of related bone deformities and disorders. AIMS: To evaluate the role of gene FGFR3 in individuals with retrognathic maxilla by polymerase chain reaction (PCR) technique at molecular level and evaluate the significance of the same. SETTINGS AND DESIGN: Hospital based fundamental research involving individuals having maxillary retrognathism. METHODOLOGY: A total of 62 individuals (30M and32F) who were willing to take part in the study were selected from cephalometric measurements of N I A and the length PNS to ANS. The institution based basic genetic research study involved collection of fresh blood samples, DNA extraction, PCR analysis, and amplification using the specifically designed forward and reverse primers for targeting the commonly occurring mutations in FGFR3 gene. Further the products were sequenced to evaluate the presence of any novel mutations. RESULTS: The targeted single-nucleotide polymorphisms, at position 1138 in exon 10 of the FGFR3 gene were not identified in the analyzed blood samples. The detailed sequencing of full gene revealed the presence of 2 novel mutations, Exon 3: A213G and Exon 3: A223A/G in one individual. CONCLUSIONS: The present study indicated 2 novel mutations in gene FGFR3 in individual with maxillary retrognathism. The genetic-environmental interactions might have played a significant role in the expression of retrognathic maxilla.

Predictors of sleep disordered breathing in children: the PANIC study.

Objective: We studied longitudinally the associations of craniofacial morphology, mouth breathing, orthodontic treatment, and body fat content with the risk of having and developing sleep disordered breathing (SDB) in childhood. We hypothesized that deviant craniofacial morphology, mouth breathing, and adiposity predict SDB among children. Materials and methods: The participants were 412 children 6-8 years of age examined at baseline and 329 children aged 9-11 years re-examined at an average 2.2-year follow-up. An experienced orthodontist evaluated facial proportions, dental occlusion, soft tissue structures, and mode of breathing and registered malocclusions in orthodontic treatment. Body fat percentage was assessed by dual-energy X-ray absorptiometry and SDB symptoms by a questionnaire. Results: Children with SDB more likely had convex facial profile, increased lower facial height, mandibular retrusion, tonsillar hypertrophy, and mouth breathing at baseline and convex facial profile, mandibular retrusion, and mouth breathing at follow-up than children without SDB at these examinations. Male gender and body adiposity, mouth breathing, and distal molar occlusion at baseline were associated with SDB later in childhood. Adipose tissue under the chin, mandibular retrusion, vertically large or normal throat and malocclusion in orthodontic treatment at baseline predicted developing SDB during follow-up of among children without SDB at baseline. Limitations: We could not conduct polysomnographic examinations to define sleep disturbances. Instead, we used a questionnaire filled out by the parents to assess symptoms of SDB. Conclusions: The results indicate that among children, deviant craniofacial morphology, mouth breathing, body adiposity, and male gender seem to have implications in the pathophysiology of SDB.

Dentofacial characteristics of oral breathers in different ages: a retrospective case-control study.

BACKGROUND: This study aimed to investigate the dental and skeletal variables associated with disturbances of craniofacial development in oral-breathing (OB) individuals and the probability that these variables are related to this condition. METHODS: This is an observational retrospective case-control study of 1596 patients divided into three groups of age n1 5-12, n2 13-18, and n3 19-57 years. Radiographic, clinical, and models data were analyzed. The control group was consisted of nasal breathing (NB) individuals. Statistical analyses of the qualitative data were performed with x (2) test to identify associations, and odds ratio (OR) tests were performed for the variables that the chi-square test (x (2)) identified an association. RESULTS: In the descriptive analysis of the data, we observed that the class II malocclusion was the most frequent in the total sample, but when divided by age group and mode of breathing, there is a random division of these variables. In n1 group, class II, (OR = 2.02) short and retruded mandible (SM and RM) (OR = 1.65 and1.89) were associated with OB and it was considered a risk factor. In n2 group, class II (OR = 1.73), SM (OR = 1.87) and increased lower anterior height (ILAFH) (OR = 1.84) seemed to be associated and to be risk factors for OB. In the n1 group, decreased lower anterior facial height (DLAFH) and brachycephalic facial pattern (BP) seemed to be associated with NB and a protective factor against oral breathing. CONCLUSIONS: This study showed that dental and skeletal factors are associated with OB in children, and it seems that it becomes more severe until adolescence. But adults showed no associations between OB and skeletal factors, only in dental variables, indicating that there is no cause-effect relationship between the dental and skeletal factors and OB. The treatment of nose breathing patient should be multidisciplinary, since OB remains even when dental and skeletal factors slow down.

Birth prevalence and initial treatment of Robin sequence in Germany: a prospective epidemiologic study.

BACKGROUND: We conducted a monthly epidemiological survey to determine the birth prevalence of Robin sequence (RS) and the use of various therapeutic approaches for it. METHODS: Between August 2011 and July 2012, every pediatric department in Germany was asked to report new admissions of infants with RS to the Surveillance Unit for Rare Pediatric Diseases in Germany. RS was defined as retro- or micrognathia and at least one of the following: clinically evident upper airway obstruction including recessions, snoring or hypoxemia; glossoptosis; feeding difficulties; failure to thrive; cleft palate or RS-associated syndrome. Hospitals reporting a case were asked to return an anonymized questionnaire and discharge letter. RESULTS: Of 96 cases reported, we received detailed information on 91. Of these, 82 were included; seven were duplicates and two erroneous reports. Given 662,712 live births in Germany in 2011, the birth prevalence was 12.4 per 100,000 live births. Therapeutic approaches applied included prone positioning in 50 infants, followed by functional therapy in 47. Conventional feeding plates were used in 34 infants and the preepiglottic baton plate (PEBP) in 19. Surgical therapy such as mandibular traction was applied in 2 infants, tracheotomy in 3. CONCLUSION: Compared to other cohort studies on RS, surgical procedures were relatively rarely used as an initial therapy for RS in Germany. This may be due to differences in phenotype or an underrecognition of upper airway obstruction in these infants.

Effects of twin block appliance on obstructive sleep apnea in children: a preliminary study.

BACKGROUND: Oral appliances are increasingly advocated as a treatment option for obstructive sleep apnea (OSA). However, it is not clear how the different designs influence treatment efficacy in children. The aim of this study was to investigate the effects of twin block (TB) appliance on children with OSA and mandibular retrognathia. METHODS: A total of 46 children (31 males, 15 females, aged 9.7 ± 1.5 years, BMI: 18.1 ± 1.04 kg/m(2)) diagnosed with mandibular retrognathia and OSA by polysomnography (PSG) and with no obesity or adenotonsillar hypertrophy were recruited for the study. Patients in the treatment group were instructed to wear the twin block oral appliance full time for an average of 10.8 months. The efficacy of treatment was determined by monitoring the PSG and cephalometric changes before and after appliance removal. Data were analyzed using paired t test. RESULTS: Results showed an improvement in patient's facial profile after treatment with the TB appliance. The average AHI index decreased from 14.08 ± 4.25 to 3.39 ± 1.86 (p < 0.01), and the lowest SaO2 increased from 77.78 ± 3.38 to 93.63 ± 2.66 (p < 0.01). Cephalometric measurements showed a significant increase in the superior posterior airway space, middle airway space, SNB angle and facial convexity which indicate an enhancement in mandibular growth, and reduction in the soft palate length. CONCLUSIONS: This preliminary study suggests that twin block appliance may improve the patient's facial profile and OSA symptoms in a group of carefully selected children presented with both OSA and mandibular retrognathia symptoms.

Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.

OBJECTIVE: Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated in a large cohort of human subjects with VCFS. METHODS: This study is a retrospective chart review including 316 Caucasian non-Hispanic subjects with FISH or CGH microarray confirmed chromosome 22q11.2 deletions. All subjects were evaluated by the interdisciplinary team at the Velo-Cardio-Facial Syndrome International Center at Upstate Medical University, Syracuse, NY. Each combination of congenital heart disease, cleft palates, and retrognathia was analyzed by Chi square or Fisher exact test. RESULTS: For all categories of congenital heart disease and cleft palate or retrognathia no significant associations were found, with the exception of submucous cleft palate and retrognathia (nominal p=0.0325) and occult submucous cleft palate and retrognathia (nominal p=0.000013). CONCLUSIONS: Congenital heart disease and cleft palate do not appear to be correlated in human subjects with VCFS despite earlier suggestions from animal models. Possible explanations include modification of the effect of TBX1 by genes outside of the 22q11.2 region that may further influence the formation of the palate or heart, or the presence of epigenetic factors that may effect genes within the deleted region, modifying genes elsewhere, or polymorphisms on the normal copy of chromosome 22. Lastly, it is possible that TBX1 plays a role in palate formation in some species, but not in humans. In VCFS, retrognathia is caused by an obtuse angulation of the skull base. It is unknown if the correlation between retrognathia and cleft palate in VCFS indicates a developmental sequence related to skull morphology, or direct gene effects of both anomalies. Much work remains to be done to fully understand the complex relationships between phenotypic characteristics in VCFS.

Cephalometric norms for saudi adults living in the western region of Saudi Arabia.

European-American norms are still used in the orthodontic treatment of Saudi patients, despite the different ethnic backgrounds of Saudis. The aims of this study were to evaluate the cephalometric features of a Saudi population and to establish cephalometric norms for Saudis living in the western region of Saudi Arabia. Seventy lateral cephalometric radiographs of Saudis (32 females and 38 males; aged 18-28 years) with acceptable profiles and Class I dental relationships were traced and analyzed. The mean value, standard deviation, and range of 16 angular and linear variables were calculated. The resulting norms for Saudis were compared with European-American norms using an independent t-test. Male and female groups were also compared using the t-test. Saudis tend to have an increased ANB angle because of retrognathic mandibles and bimaxillary protrusion as compared with European-Americans. Males tend to have more prognathic mandibles than females as indicated by the statistically significant increase in facial angle (P < .05) and SNB angle (P < .05). Although the anterior lower face height was similar in males and females, males tend to have a steeper mandibular plane angle when related to the anterior cranial base than females (P < .05). Saudis have distinct cephalometric features, which should be used as a reference in treating Saudi orthodontic patients.

El SAHS en la edad pediátrica. Clínica, diagnóstico y tratamiento / No disponible

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Prevalencia de anomalías en ortodoncia / The prevalence of anomalies in orthodontics

Se revisaron 272 protocolos con sus respectivos cefalogramas, modelos y Rx. Se encontraron 118 DHD (67 fem. y 51 masc.); 74 distoclusiones (39 fem., 35 masc.); 39 mesioclusiones (15 fem., 24 masc.) y 41 casos agrupados en varios (32 fem., 9 masc.) Las edades oscilaron desde los 5 años a los 30 años divididos en tres grupos etarios, 5 a 10 años, 10 a 20 años y + 20 años

Prevalencia de anomalías en ortodoncia / The prevalence of anomalies in orthodontics

Se revisaron 272 protocolos con sus respectivos cefalogramas, modelos y Rx. Se encontraron 118 DHD (67 fem. y 51 masc.); 74 distoclusiones (39 fem., 35 masc.); 39 mesioclusiones (15 fem., 24 masc.) y 41 casos agrupados en varios (32 fem., 9 masc.) Las edades oscilaron desde los 5 años a los 30 años divididos en tres grupos etarios, 5 a 10 años, 10 a 20 años y + 20 años (AU)

[Observational study of craniofacial growth and development in Mexican children]. / Trabajo de investigación observacional prolectivo. Crecimiento y desarrollo cráneo facial en niños mexicanos.

The election of a investigation about craniofacial growing and development in Mexican children, was done due to a lack of national information in this rubric and as a fundamental part of the "growing and development in the scholastic" module of the Universidad Autónoma Metropolitana-Xochimilco, which work hypothesis was that "craniofacial growing and development in Mexican, 6 to 12 children in Xochimilco area are due to nutritional deficiency, second dentition eruption delay and dental maloclution "which was totality confirmed in a 100 Mexican facial characteristic children field work study, with cephalometric studies which permit to determine the craniofacial growing standard. This study was corroborated with a 40 children, 4 years later follow up.

[Labioglossopexy in Pierre Robin syndrome. Our experiences apropos of 70 cases]. / La labio-glossopexie dans le syndrome de Pierre Robin. Notre expérience à propos de 70 cas.

Pierre Robin syndrome is typically characterized by glossoptosis and retrognathia associated with cleft palate, respiratory and deglutition disturbances. Two morphological tendencies arise out of this 70-patient series, 50 of whom were managed with the same therapeutical regimen, which included labioglossopexy and was associated with only one case of death: "deforming" type Pierre Robin syndrome most commonly follows a favorable course with respect to both function and facial deformations, provided labioglossopexy is carried out sufficiently early. Indeed, this surgical operation allows for prompt restoration of normal function, thereby limiting the dysfunction-deformation vicious circle. This form of Pierre Robin syndrome may find its origin in the embryo's abnormal amniotic environment. "Malformation"-associated Pierre Robin syndrome often presents with combined anomalies, respiratory disturbances that may evolve into severe airway problems, impaired deglutition and abnormal brain development; in most cases, labioglossopexy will dramatically improve the immediate state of the child, although long-term prognosis as regards malformation is rather guarded.

Class III malocclusion: a cephalometric study of Saudi Arabians.

The records of 500 consecutive Saudi Arabian patients referred for orthodontic treatment were examined clinically and cephalometrically for Class III malocclusion. A control group was drawn at random from the same sample. The incidence of Class III was 9.4 per cent, with mandibular prognathism being the commonest presentation of the malocclusion. The upper and lower incisors exhibited a marked degree of dentoalveolar compensation, on dental bases having mean values of SNA--78.77 degrees and SNB--81.17 degrees. The maxillary length was reduced, as were the saddle and maxillary-mandibular plane angles. The gonial angle (ArGoMe), anterior and posterior facial heights, and mandibular lengths (ArGo, ArPo) were all significantly larger than the control group. The cephalometric values of the control group showed the increased tendency to bimaxillary protrusion in the Saudi Arabian sample.