The goniomaxillar length/goniomandibular length ratio in normal newborn infants: A clinical tool for defining chin position abnormalities.

Retrognathia (recessed chin) and prognathism (prominent chin) often present as signs of an underlying condition. Accurate clinical definitions are important. Yet their definitions were according to "clinical impression", or to seldom used X-ray criteria. We propose a statistical and anthropometric definition of retrognathia and prognathism based upon the ratio between the goniomaxillar length (distance between the gonion at the mandible angle and the subnasale and the goniomandibular length (distance between the mandible angle and the most anterior point of the bony chin). We assumed that an increase in the ratio indicates retrognathia and a decrease reflects prognathism. We conducted a prospective, observational, anthropometric study in 204 consecutive healthy term infants. Measurements took place on the second day of life, using sliding calipers. Mean ± SD of goniomandibular length (5.1 ± 0.3 cm), goniomaxillar length (5.4 ± 0.3 cm), were calculated. All measurements correlated significantly with gestational age, and with infant birthweight. The mean ± SD goniomaxillar length/goniomandibular length ratio was 1.06 ± 0.05. We defined a normal ratio as being within 2 SD of the mean, that is, between 0.96 and and 1.16. This ratio correlated with neither gestational age nor with birthweight. We conclude that the goniomaxillar length/goniomandibular length ratio can be calculated whenever retro - or prognathism is suspected. A ratio outside of the 95% confidence interval should help in making this diagnosis. An increase in this ratio beyond 2 SD above the mean (1.16) could be interpreted as retrognathia and a decrease beyond 2 SD below the mean (0.96) as prognathism.

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.

Intrachromosomal triplications are complex chromosomal rearrangements which arise during meiosis or mitosis and lead to a tetrasomic dose of the affected genomic regions. We describe a female patient harboring an intrachromosomal triplication who presented to the Genetics clinic with dysmorphic features, including telecanthus, flat facial profile, and prognathism, short stature, widely spaced nipples, multiple allergy complaints, loose bowel movements, and mild speech delay. Microarray analysis showed a copy number gain of a 22.37 Mb region of chromosome 11 between bands 11q14.1 and 11q22.1. This region contains 95 genes and seven microRNAs, none of which have been implicated in a disease resulting from increased gene dosage. FISH analysis using a probe targeted to the middle of the segment of the copy number gain yielded a pattern indicative of a tetrasomy via an intrachromosomal triplication, with three signals on the long arm of one homologue of chromosome 11 and the fourth on the other homologue. Subsequent FISH analysis showed that the middle triplicated fragment was positioned in an inverted orientation relative to the outer fragments. To investigate the mechanism by which the intrachromosomal triplication occurred, SNP microarray analysis was performed. These results were consistent with the presence of multiple haplotypes in the tetrasomic region and suggest that the intrachromosomal triplication in our patient arose in one parent during meiosis. © 2017 Wiley Periodicals, Inc.

Genetic Factors Involved in Mandibular Prognathism.

Mandibular prognathism is defined as an abnormal forward projection of the mandible beyond the standard relation to the cranial base and it is usually categorized as both a skeletal Class III pattern and Angle Class III malocclusion. The etiology of mandibular prognathism is still uncertain, with various genetic, epigenetic, and environmental factors possibly involved. However, many reports on its coexistence in both twins and segregation in families suggest the importance of genetic influences. A multifactorial and polygenic background with a threshold for expression or an autosomal dominant mode with incomplete penetrance and variable expressivity are the most probable inheritance patterns. Linkage analyses have, thus far, shown the statistical significance of such loci as 1p22.1, 1p22.3, 1p32.2, 1p36, 3q26.2, 4p16.1, 6q25, 11q22, 12pter-p12.3, 12q13.13, 12q23, 12q24.11, 14q24.3 to 31.2, and 19p13.2. The following appear among candidate genes: MATN1, EPB41, growth hormone receptor, COL2A1, COL1A1, MYO1H, DUSP6, ARHGAP21, ADAMTS1, FGF23, FGFR2, TBX5, ALPL, HSPG2, EVC, EVC2, the HoxC gene cluster, insulin-like growth factor 1, PLXNA2, SSX2IP, TGFB3, LTBP2, MMP13/CLG3, KRT7, and FBN3. On the other hand, MYH1, MYH2, MYH3, MYH7, MYH8, FOXO3, NFATC1, PTGS2, KAT6B, HDAC4, and RUNX2 expression is suspected to be involved in the epigenetic regulations behind the mandibular prognathism phenotype.

The Habsburg Jaw-re-examined.

"Habsburg Jaw" is a frequently used eponymous designation for patients with mandibular prognathism, hyperplasia, or overgrowth. The purpose of this study was to evaluate portraits of the Spanish Habsburgs to determine the relative contributions of maxillary deficiency and mandibular prognathism to overall facial appearance. Representative portraits of the Spanish Habsburgs were assessed by 4 investigators for the presence of 11 anatomic features of maxillary deficiency and 7 of mandibular prognathism. Each characteristic was given a binary score of 1 if present and 0 if absent. Thus, the maximum score would be 11 for maxillary deficiency and 7 for mandibular prognathism. A semi-quantitative scale was established to determine the likelihood of each diagnosis: Maxillary deficiency: 0-4.99 (unlikely), 5-7.99 (likely), 8-11 (very likely); mandibular prognathism: 0-2.99 (unlikely), 3-5.99 (likely), 6-7 (very likely). Six of 7 Habsburg rulers were considered either likely or very likely to have maxillary deficiency, whereas 3/7 were assessed as likely and 4 unlikely to have mandibular prognathism. The results of this study suggest that the primary deformity of the "Habsburg Jaw" is maxillary deficiency rather than absolute mandibular prognathism.

Serum microRNAs as potential biomarkers of mandibular prognathism.

OBJECTIVES: The aim of the study was to determine whether the expression levels of specific circulating serum microRNAs (miRNAs) are associated with mandibular prognathism (MP). METHODS: Sixty subjects in the early permanent dentition stage and 23 in the mixed dentition stage with MP were identified. Sixty-eight normal control subjects in the early permanent dentition stage and 24 in the mixed dentition stage were recruited for comparison. According to the microarray-based expression profiling, four serum miRNAs (let-7i-3p, miR-595, miR-16-2-3p, and miR-367-5p) were validated. RESULTS: In the MP groups, let-7i-3p was significantly over-expressed in subjects in the early permanent (P < 0.0005) and mixed (P < 0.001) dentitions, and miR-595 was significantly under-expressed (P < 0.004) in subjects in the early permanent (P < 0.004) and mixed (P < 0.0005) dentitions, compared with normal control groups. Multiple logistic regression analysis and receiver operating characteristic curve analysis revealed that let-7i-3p and miR-595 were able to significantly discriminate MP subjects from normal controls. CONCLUSION: Let-7i-3p and miR-595 could be potential, non-invasive biomarkers for the accurate early detection and diagnosis of MP, which may result in improved clinical management.

[Acanthosis nigricans in children and Crouzon syndrome]. / Acanthosis nigricans chez l'enfant et syndrome de Crouzon.

BACKGROUND: Crouzon syndrome with acanthosis nigricans is a rare form of Crouzon syndrome in which craniosynostosis and facial dysmorphism are associated with acanthosis nigricans. PATIENTS AND METHODS: Cutaneous examination of a 9-year-old child presenting bicoronal craniosynostosis revealed acanthosis nigricans of the cervical, axillar, inguinal and popliteal regions which appeared at the age of two. He had a dysmorphic face including a large forehead, hypertelorism, mid-face hypoplasia, prognathism and low-set ears. These clinical anomalies suggested a case of Crouzon syndrome with acanthosis nigricans, which was later confirmed by the finding of a mutation in the FGFR3 gene. DISCUSSION: Acanthosis nigricans in children is often a cutaneous marker of insulin resistance. However, it may also form part of diverse diseases, notably those of genetic origin. The association of craniosynostosis and acanthosis nigricans allows incrimination of the FGFR3 gene from the outset and diagnosis of Crouzon syndrome with acanthosis nigricans. In the present case, dermatological examination allowed an aetiology of craniosynostosis to be determined.

The tricho-rhino-phalangeal syndrome: oral manifestations and management.

Tricho-rhino-phalangeal Syndrome (TRPS) is a rare inherited dysplasia affecting hair, nasal structure and fingers. A literature review indicated that since first described, three types of manifestations have been identified. A Table summarising the oral manifestations demonstrates the variety of presentations. A South African male child presented with the syndrome and was found to show premature eruption of permanent teeth, a finding that has not been previously reported. His oro-facial manifestations also included malaligned and unerupted crowded teeth, bulbosity of the nasal tip and an elongated philtrum and evidence of mild intellectual impairment. A protocol has been developed to guide the future management of these cases.

Multidisciplinary treatment of peripheral osteoma arising from mandibular condyle in patient presenting with facial asymmetry.

While osteomas often occur in the orofacial area, it is relatively rare for one to occur in the temporomandibular joint area. Here, we report a patient who underwent multidisciplinary treatment including high condylectomy for peripheral osteoma arising in the left mandibular condyle. The patient was a 46-year-old woman with the chief complaint of facial asymmetry. Cephalometric analysis revealed skeletal anterior crossbite due to anterior deviation of the mandible, with chin deviation of 10 mm to the right. A computed tomography scan revealed bone hyperplasia in the mesiodistal and inner areas of the left mandibular condyle, which exhibited outward anterior displacement. Bone scintigraphy showed a circular area of strong radioisotope accumulation with indistinct boundaries, consistent with the lesion in the left mandibular condyle. The above findings led to a diagnosis of skeletal mandibular prognathism with facial asymmetry due to peripheral osteoma originating in the left mandibular condyle. After orthodontic treatment and surgical resection of the tumor and mandibular condyle, preservation and prosthetic treatment were undertaken. A well-balanced facial appearance and good occlusion were achieved.

Posterior crossbite and temporomandibular disorders (TMDs): need for orthodontic treatment?

The aim of this work was to update the bibliography regarding the concept of 'temporomandibular disorder (TMD)' and 'posterior crossbite' and try to find out if there is any association between some special signs/symptoms of TMD and type of posterior crossbite. A literature search from 1970 to 2009, due to specified criterion, resulted in 14 publications that were found to be relevant for the present systematic review. An association between TMD and posterior crossbite (Yes-group) was reported as often as absence of such a relationship (No-group). The samples in the two groups showed similarities as well as differences with respect to number, gender, and age. Most articles reported only on 'presence' or 'absence' of crossbite and only few on type of crossbite opposite to a thorough account of clinical signs and symptoms of TMD. This review seems, however, to state that a functional posterior crossbite (mandibular guidance with midline deviation) is associated with headache, temporomandibular joint and muscular pain, and clicking. As evident from the discussion, such type needs orthodontic treatment to rehabilitate the asymmetric muscular activity between the crossbite and non-crossbite sides and the changed condyle/temporal relationship caused by mandibular deviation. Whether this treatment also will avoid future TMD problems can be answered only after clinical follow-up studies have been performed.

Crouzon syndrome--A case report.

Crouzon syndrome is a genetic disorder also known as branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. Previously referred to as craniofacial dysostosis, the disorder is characterized by a number of clinical features; to date, it has no known single, initiating defect to account for all its characteristics. This article presents a case report of a 10-year-old boy with classical skeletal and soft tissue features of Crouzon syndrome.

Cephalometric evaluation-based on Steiner's analysis on young adults of Chhattisgarh, India.

AIM: The study was conducted to establish skeletal and dental parameters for Chhattisgarhi young adults, evaluation of variability between male and female Chhattisgarhi normal occlusion subjects and comparison of Cephalometric norms of Chhattisgarh population with Caucasians as well as other non- Caucasian groups. MATERIALS AND METHODS: A Cephalometric study of 80 Chhattisgarhi young adults (40 males and 40 females) with acceptable profile and occlusion was carried out by means of Steiner's analysis. RESULTS: In comparison to the Caucasian samples, the Chhattisgarhi samples were more protrusive skeletally and dentally and exhibited a more horizontal growth pattern than the Caucasians. The females reported with an increased incisor procumbency, prominent chin and prognathic maxilla than their male counterparts. CONCLUSION: The results of the study support the fact that a case of malocclusion cannot be treated to a template of norms which have been derived from mean values of a certain select group of subjects with excellent occlusion and harmonious facial proportions. CLINICAL SIGNIFICANCE: A case of malocclusion needs to be treated based on the individual merits and demerits of that case and not based on template of norms derived from mean values of select subject groups with ideal occlusion and proportion.

Relationship between orthodontic expertise and perception of treatment needs for maxillary protrusion: comparison of dental students, residents, and orthodontists.

INTRODUCTION: The aims of this study were to assess the peer assessment rating (PAR) index in relation to perceived treatment needs for maxillary protrusion in Japanese subjects and to investigate how perceived orthodontic treatment needs change with increased experience in dentistry and orthodontics. METHODS: The subjects were 155 persons (73 men, 82 women; mean age, 24.2 years; SD, 4.7 years) including dental students, residents, and orthodontists. We showed them casts from 10 patients with untreated maxillary protrusion and gave them a questionnaire with a 100-point visual analog scale (VAS), concerning their perceptions of orthodontic treatment needs. The PAR index was used for cast evaluation. RESULTS: The PAR index showed significant correlations with the VAS scores. On the casts evaluated with a PAR index below 17, there was no difference in VAS scores between the 3 groups; however, orthodontists perceived significantly greater treatment needs than did students and residents on casts with a PAR index of 18 or 19. The VAS scores were significantly increased when casts with a PAR index of more than 20 and overjet above 5.0 mm were evaluated. Orthodontists and residents perceived greater treatment needs than students on assessing occlusions with severe maxillary protrusion. CONCLUSIONS: The PAR index is clinically useful to evaluate malocclusion, and the perception of treatment needs was significantly greater when the maxillary protrusion cast had a PAR index of more than 20 and overjet above 5.0 mm. Perceived needs for orthodontic treatment for maxillary protrusion changed with increasing experience and skills in dentistry and orthodontics.

[The functional mandibular prognathism]. / Le proglissement mandibulaire.

The functional mandibular prognathism belong to the class III malocclusion according to the terminology of Angle. Its origins are multiple, from the abnormality of eruption of deciduous or definitive incisors to lingual dysfunction (low position of the tongue). In spite of its weak prevalence, it must be prematurely detected and treated (mixed or temporary teeth) to prevent a functional anomaly to become a skeletal anomaly. It is important at this stage to proceed to the unique gesture which allows making the differential diagnosis: it is the De Névrezé procedure; it allows obtaining a more retrusive position of the mandible to minimize the dental relations. In case of true mandibular prognathism, the maneuver does not succeed; there is no modification of the dental reports. An interceptive therapeutic phase allows finding quickly a previous correct guide and to rehabilitate the growth of jaws.

A special case of anencephaly in an early-born baby with an exagerated prognastic face: further example for human devolution.

A 7-month-old baby was born in a village near Iskenderun (Turkey) where "Unertan Syndrome" with quadrupedality and primitive cognitive abilities was discovered. The clinical diagnosis was anencephaly. However, his head did not show the classical symptoms of anencephaly because it was covered with bony structures. The baby has an ape-like, prognasthic head with low-set ears and flapped ear flaps. The other parts of the body were similar to humans with broad shoulders and a short neck. This may be a further example of human devolution, which was first reported by Tan (2005, 2006a,b,c). A genetic defect affecting the head development including brain may be responsible for the reappearance of the ape-like head in a human being. This human devolution, or evolution in reverse, suggests that the same gene or gene-pool as well as the interactions between genes may be responsible for the transition from our ancestors into human beings with regard to an orthognasthic head, and brain development.

Saethre-Chotzen syndrome: Case report and literature review.

Saethre-Chotzen syndrome (SCS) belongs to a group of rare congenital disorders connected with craniosynostosis and syndactyly. The purpose of this paper is to provide a review of the literature, to collect all reported symptoms and to describe the case of an 11-year-old female with SCS. The electronic databases PubMed and Scopus were searched to gain all symptoms of SCS described in the literature. The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism. Less common symptoms include hearing loss, renal abnormalities and cardiac defects. Intraoral manifestations of SCS include maxillary hypoplasia, mandibular prognathism and high arched palate. Moreover, in some patients mental disability is observed, which may be connected with the size of the deletion in the Twist gene. There are no pathognomonic symptoms of SCS, which would indicate a diagnostic problem. Our patient displayed small dysmorphic changes within the skull and limbs and proper intellectual development. On the basis of an intraoral, extraoral examination and X-rays, she was diagnosed with relative mandibular prognathism. Currently, she is treated with a removable appliance. This report emphasizes a considerable variability of symptoms in SCS and highlights the most common features.

Occlusal stability after Herbst treatment of patients with retrognathic and prognathic facial types : A pilot study.

OBJECTIVES: The purpose of this study was to assess and compare occlusal changes induced by Herbst treatment and the stability of these changes in patients with retrognathic and prognathic facial types. PATIENTS AND METHODS: The sample comprised 11 retrognathic (SNA ≤76°, SNB ≤72°, ML/NSL ≥36°) and 10 prognathic (SNA ≥83°, SNB ≥80°, ML/NSL ≤32°) patients with Class II molar relationships of ≥0.5 cusp widths bilaterally or ≥1.0 cusp width unilaterally. Both groups involved similar distributions of skeletal maturity before treatment. Study parameters were assessed on casts reflecting the situations before treatment (T0), after Herbst treatment (T1), after multibracket treatment immediately following Herbst treatment (T2), and after a mean of 31.1 months of retention (T3). RESULTS: Sagittal molar relationships improved by 0.8 cusp widths in the retrognathic and by 0.7 cusp widths in the prognathic group during active treatment (T0-T2). Insignificant changes of ≤0,2 cusp widths were seen in both groups during retention (T2-T3). Overjet decreased by 8.6 mm in the retrognathic and by 5.5 mm in the prognathic group during T0-T2, and both groups showed clinically irrelevant amounts of relapse by 0.7 mm during T2-T3. Overbite improved by 1.2 mm in the retrognathic and by 2.5 mm in the prognathic group during T0-T2, reaching mean values of 1.0 mm or 1.4 mm by T2, which was followed by 0.2 mm or 1.1 mm of relapse during T2-T3. CONCLUSION: Treatment with a Herbst appliance seems to offer stable correction of the sagittal occlusal relationships in Class II patients with retrognathic or prognathic facial types, with the vertical changes being more pronounced in the prognathic cases.

Clinical and radiologic aspects of maxillonasal dysostosis (Binder syndrome).

Maxillonasal dysostosis, described by Binder in 1962, is probably more common than one would think from the small number of cases that have been published (fewer than 40). We have seen 37 cases of this syndrome over a period of 8 years. Diagnosis of the syndrome is easy because of its characteristic anomalies of the upper lip and nose: smallness of the nose, a groove under the columella, a "half-moon" appearance of the nasal apertures, absence of the nasal spine, and projection of the chin. In addition, we have observed several associated abnormalities: convergent strabismus (2 cases), mongolism (1 case), labiomaxillopalatine cleft (1 case), and, of particular note, numerous abnormalities of the cervical spine, frequently associated with mandibular prognathism. In view of the frequency of the latter abnormalities. Binder syndrome might well be called a "nasomaxillovertebral syndrome."

Maxillary advancement for mandibular prognathism: indications and rationale.

The surgical correction of mandibular prognathism has traditionally involved posterior repositioning of the mandibular body. This treatment approach corrects the skeletal disproportion at the expense of reducing facial skeletal volume and can unpredictably result in inadequately supported soft tissues with loss of skeletal definition. In an effort to avoid these sequelae of mandibular reduction, 18 patients diagnosed as having mandibular prognathism were treated with maxillary advancement surgery at the Le Fort I level. Mean patient SNB angle was 85.2 degrees, as compared with a normal 79 +/- 3 degrees. Maxillae were documented to be in normal position relative to both cranial base and Frankfort horizontal. The mean maxillary advancement was 6.9 mm, with a range of 4.5 to 8.8 mm. All patients required genioplasty to reduce vertical chin height and/or to laterally shift the chin. At the time of follow-up (mean 16.2 months), all patients retained cephalometric data suggestive of enlarged mandibles and excessive anterior facial divergence. However, maxillomandibular harmony and facial convexity had been restored without sacrificing skeletal volume. Treatment results demonstrated these faces to be skeletally well proportioned despite lower face protrusion that was beyond "normal." Postoperative appearances were characterized by a well-supported soft-tissue envelope and a highlighted skeletal foundation, creating angular, well-defined lower faces. These findings support the credibility of maxillary advancement as the procedure of choice in selected individuals with mandibular prognathism. Indications and an aesthetic rationale for this surgical approach are presented.

Cephalometric evaluation in children presenting adapted swallowing during mixed dentition.

The tongue trust and anterior projection through the dental arcades during swallowing is known as Adapted Swallowing (AS) and is a common finding during mixed dentition. The authors studied the morphologic dentofacial characteristics through cephalometric measures in 38 girls and 35 boys, aged seven to nine years, presenting AS, as determined by the speech therapist evaluation. Cephalometric evaluation was obtained by Radiocef 2.0 software. The measurements studied were the mandibular and maxillary relations to the cranial base, the nasolabial angle, and the upper airway patency, as proposed by McNamara Jr (1984), and the convexity and facial axis angles and maxillary height from Ricketts (1960; 1981). Results, analyzed in relation to sex and racial group, showed an association of Class II facial convexity with the African Brazilian children with dark black skin. This classification does not reflect an abnormality as all African Brazilians studied were classified as class II, due to the fact that the standard measurements are based in the white American population. These findings point to the need of specific racial normative standard for evaluating orofacial and dental structures.

Malocclusions in guinea pigs, chinchillas and rabbits.

The types of malocclusions encountered in rodents and lagomorphs are classified. Diagnosis, treatment, and prognosis are reviewed. Some malocclusions are curable, whereas others can only be controlled. The need to perform a complete oral examination and to find a cause for the condition is stressed, as it will seriously affect the prognosis.