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PubMed1995

Juvenile chronic arthritis. Dentofacial morphology, growth, mandibular function and orthodontic treatment.

In children with Juvenile Chronic arthritis (JCA), temporomandibular joint involvement may lead to disturbances in dentofacial growth and mandibular function. The aim of this thesis was to study the dentofacial morphology, temporomandibular joint destruction and mandibular function in JCA children, and the relation between these factors. The intention was also to make a longitudinal study of the changes in facial morphology during growth and during treatment with functional appliances. Thirty-five JCA children, 12 boys and 23 girls, aged 7-16 years (mean 11.2 years), and the control groups, with either normal or distal occlusion, were studied by means of panoramic radiographs, lateral cephalograms, study casts, recordings of signs and symptoms of temporomandibular disorders (TMD), bite force and chewing characteristics. A method to evaluate the condylar height on panoramic radiographs was developed. Panoramic radiographs are found to be reliable for evaluation of the condylar height, provided the same panoramic machine is used. The dentofacial morphology in JCA children is characterized by a smaller, more retrognathic and steeper inclined mandible compared to that of healthy children with ideal occlusion. Compared to healthy children with distal occlusion, no difference in mandibular retrognathia could be demonstrated but the JCA children showed a smaller, more steeply inclined mandible. The presence and extent of condylar lesions play a significant role in the development of the facial morphology and also contribute to the facial heterogeneity among JCA children. During growth the JCA children without radiographically visible condylar lesions showed a growth pattern resembling that of healthy children with normal occlusion, while children with condylar lesions showed aggravation of the mandibular retrognathia and a tendency towards a backward-rotating growth pattern. The chewing movements in JCA children are restricted by the disease and by the presence of condylar lesions. In JCA children with distal occlusion, interaction between both factors (JCA and malocclusion) resulted in further alterations of the chewing movements and chewing velocity. Subjective signs and clinical symptoms of TMD are more frequently found in JCA children, some of which are significantly correlated to radiographic changes in the condyle. The bite force and the endurance time are about half of that of healthy children. A low molar bite force is significantly correlated to a low mouth-opening capacity. The orthodontic treatment with functional appliances resulted in improvement in the dental malocclusion, while the skeletal effects were of minor magnitude in both the JCA children and in healthy children with distal occlusion.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1996

Morphological deficiency in the prenatal anterior cranial base of midfacially retrognathic mice.

The role of the anterior cranial base in the establishment of midfacial retrognathia remains unclear. The purpose of this study was to determine whether morphological deficiencies occur in the developing anterior cranial base of the retrognathic Brachyrrhine (3H1 Br/+) mouse mutant shortly after overt cartilaginous differentiation and to localise any malformations. Crania from 2 groups of 3H1 Br/+ and +/+ mice, each consisting of 15 animals, were collected at gestational days 15, 17, and 19 (Theiler stages 23, 25, 27). The anterior cranial base from each specimen was subjected to computerised reconstruction and 8 homologous anatomical landmarks were digitised on each model. The landmark configurations were subjected to Procrustes analysis and significant differences between models were determined at each age. In order to localise differences between forms, average landmark configurations derived from Procrustes analysis were subjected to finite-element analysis. Two cluster models were generated based on size-change values. One cluster was located anteriorly and superiorly while the second was located posteriorly and inferiorly within the anterior cranial base. Results indicate that the size-change values for the posterior and inferior cluster increased more rapidly compared with the anterior and superior region over the age range tested. These data indicate that the midfacial retrognathia in Br/+ mice is associated with abnormal growth activity in the presphenoid component of the presumptive anterior cranial base. In addition, the deficiency is present in the presphenoid at the time of overt cartilaginous differentiation.

Animals↗
PubMed2004

Craniofacial structure in Marfan syndrome: a cephalometric study.

Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance. Mutations in the FBN1 gene cause deficient processing of fibrillin-1, the main constituent of extracellular microfibrils, affecting tissues displaying elastic properties. Clinical manifestations are widespread and involve the skeletal, ocular, cardiovascular and pulmonary systems, skin and integumentum, and dura. A highly arched palate and retrognathia have been assigned to the symptoms with minor diagnostic specificity, although epidemiological data on prevalence are lacking yet. Twenty-six patients with MFS (n = 26) were studied for craniofacial characteristics using cephalometric measurements on lateral cranial radiographs. The purposes of this study were (1) to compare cephalometric variables of MFS group with age- and sex-matched population norms, and (2) to assess differences in palatal vault dimensions among adult MFS (n = 17) and matched controls (n = 32) by means of cephalometric measurements. Significant differences with population norms were found in the structures of the cranial base, the maxillary complex, the mandible body, and the relations of the jaws with respect to the cranial base and to each other. Palatal height and palatal length were significantly larger in MFS, and were significantly correlated to each other and to the height of the maxillo-alveolar processus. The present data disprove in part previously reported findings, possibly due to biased patient selection in these studies or demographic differences. However, a strong correlation was found between maxillary/mandibular retrognathia, long face, highly arched palate, and MFS. A combination of both intrinsic genetic factors and environmental factors is suggested as a possible explanation for specific morphogenetic aspects of the craniofacial complex in MFS.

Adolescent↗
PubMed1988

Chondrodystrophic mice with coincidental agnathia: evidence for the tongue obstruction hypothesis in cleft palate.

Mice homozygous for either of two mutations, chondrodysplasia (cho) or cartilage matrix deficiency (cmd), have short-limbed chondrodystrophy. This phenotype includes retrognathia, relative macroglossia, and cleft palate. It has been postulated that the cleft palate in these mice is the result of tongue obstruction during palatogenesis. Agnathia associated with microglossia is an independent spontaneously occurring defect in the strains bearing these mutations. The coincidental occurrence of agnathia-microglossia with chondrodystrophy lends itself to the study of the mechanism of cleft palate formation. We examined approximate midsagittal histological sections of normal and chondrodystrophic newborn mice, both with and without agnathia. Mandibular measurements and examinations of palate closure and tongue structure were made from photographic prints. Typical chondrodystrophic mutants with cleft palates had a mean mandibular length that was 66% of normal and a tongue that appeared large relative to the shortened mandible. Chondrodystrophic mutants with agnathia and microglossia had a mean mandibular length that was further reduced to 30% of normal, yet had a closed palate. We also observed two nonagnathic chondrodystrophic mutants that had slightly decreased mandibular lengths, microglossia, and closed palates. These observations suggest that tongue obstruction during palatogenesis is the pathogenetic mechanism of cleft palate in chondrodystrophic mice. A similar tongue obstruction hypothesis has been proposed as the mechanism of cleft palate formation in the human Pierre Robin sequence, which consists of retrognathia, glossoptosis, and cleft palate. This mechanistic hypothesis has been challenged, but our findings support the tongue obstruction hypothesis in the Robin cleft.

Abnormalities, Multiple↗
PubMed2002

Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence.

UNLABELLED: Pierre Robin sequence (posterior U-shape cleft palate, glossoptosis, retrognathia) (PRS) is a frequent and heterogeneous neonatal condition of obscure origin. We show here that orodigestive and cardiorespiratory functional disorders are very frequent in PRS and that these functional disorders, as well as anatomical and embryological data, argue for the involvement of brainstem dysfunction in the pathogenesis of some cases of isolated PRS. A total of 66 infants consecutively admitted for isolated PRS were followed-up with observations and investigations focused on their orodigestive and cardiorespiratory disorders. Neonatal clinical examination and neonatal anatomical aspects of the three orofacial features of the sequence were evaluated. Feeding difficulties and respiratory disorders were recorded and infants were classified according to three grades of severity. The relation between functional severity grade and neonatal orofacial features was evaluated, as well as the relation between functional severity grade and specific criteria characterising oesophageal and laryngeal motility and cardiac orthoparasympathetic imbalance. In the first weeks of life, sucking and swallowing disorders (100%), excessive regurgitation (94%), upper airways obstruction (50%), and cardiac vagal overactivity (59%) were noted. Correlation of anatomical features with functional severity grades was poor except for extreme forms of glossoptosis and retrognathia. Specific anomalies of oesophageal motility, pharyngolaryngeal tone and parasympathetic cardiac regulation were described. These anomalies were more frequent in children with the two higher grades of functional severity. CONCLUSION: infants with Pierre Robin sequence have early and severe anomalies of orodigestive and cardiorespiratory function which do not appear to be related solely to anatomical features and which require proper medical management. We suggest a prenatal and neonatal brainstem dysfunction as a neuroembryological hypothesis to explain the onset of some cases of Pierre Robin sequence.

Brain Diseases↗
PubMed2003

Improvement of facial appearance and nocturnal breathing with geniotomy (sliding genioplasty): report of two cases.

This article reports on two cases of nonobese female patients who presented in an orthodontic practice complaining of dental malocclusion and facial dysharmony. Because of the observed clinically and radiographically extreme mandibular retrognathia, they were referred for a sleep study and were found to have mild sleep apnea. Surgery in the form of advancement geniotomy was offered to relieve their retroglossal obstruction, improve their nocturnal sleep, and simultaneously address their facial esthetic concerns. Advancement geniotomy is useful for sleep apneic patients with exclusively retroglossal obstruction secondary to mandibular retrognathia.

Adult↗
PubMed1982

Hemifacial microsomia treated with the Herbst appliance. Report of a case analyzed by means of roentgen stereometry and metallic implants.

The effect of Herbst appliance treatment on facial growth of one patient was recorded in terms of displacement of the mandible and the maxillary bones in relation to the frontal bone. The recordings were made with an accuracy of 0.1 degree and 0.05 mm. (S.D.). Before treatment the jaws were displaced posteriorly and to the affected side with growth, increasing the degree of retrognathia and facial asymmetry. During treatment facial growth was redirected and the jaws were displaced anteriorly and to the unaffected side, decreasing th degree of retrognathia and asymmetry. At the same time, however, the tilt of the mandible to the affected side was increased, possibly because of the morphologic and functional conditions of the jaws in hemifacial microsomia. The dental malocclusion was corrected partly through displacement of the jaws and partly through dentoalveolar adaptation.

Activator Appliances↗
PubMed2002

Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literature.

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare condition first identified in 1970. The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The most common clinical feature is ectodermal dysplasia. Ectrodactyly, cleft lip with or with out cleft palate and urogenital anomalies are also main clinical features of EEC syndrome. Pierre Robin (PR) sequence has the clinical findings of micro-retrognathia, retroposed tongue (glossoptosis), cleft of the secondary palate, and upper airway obstruction. Etiologically PR sequence is heterogeneous. It has been reported that less than 20% of cases are isolated, non-syndromic PR sequence. We present a case of a newborn male who was referred to our craniofacial clinic with EEC syndrome and PR sequence. This case represents a unique clinical association. We found no other reports in the literature of these two clinical entities occurring together. Upper airway obstruction of PR sequence, secondary to glossoptosis and micro-retrognathia, gives this association clinical relevance. In addition, this clinical association may represent a new gene locus associated with EEC syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Prediction of uvulopalatopharyngoplasty response using cephalometric radiographs.

PURPOSE: To evaluate the relationship between facial cephalometric measures and response to uvulopalatopharyngoplasty (UPPP). PATIENTS AND METHODS: Retrospective analysis of skeletal cephalometric measures obtained from a consecutive sample of 43 patients with obstructive sleep apnea syndrome (OSAS) who underwent body mass index (BMI) measures, UPPP, upright lateral cephalometric radiographs, and preoperative and postoperative polysomnography. Significant clinical effect by uvulopalatopharyngoplasty was arbitrarily defined as having a 50% reduction in the respiratory disturbance index (RDI). The cephalometric measurements used were based solely on skeletal landmarks. RESULTS: No skeletal measurement predicted response to UPPP for the entire study population. When the patients were classified on the basis of retrognathia, 33 were identified without retrognathia. In that group, posterior airway length was the greatest predictor of response to UPPP (P < or = .05; odds ratio, 83.2). The distance between hyoid and mandible and the maxillary-mandibular relationship were also predictive of response (P < or = .05). CONCLUSION: The skeletal anatomy supporting the airway directly impacts the response to UPPP. Prediction of response requires stratification by skeletal subtype.

Body Mass Index↗
PubMed2003

Craniofacial morphology and growth comparisons in children with Robin Sequence, isolated cleft palate, and unilateral complete cleft lip and palate.

OBJECTIVE: Comparison of early craniofacial morphology and growth in children with nonsyndromic Robin Sequence (RS), isolated cleft palate (ICP), and unilateral complete cleft lip and palate (UCCLP). SUBJECTS: One hundred eight children with cleft: 7 with RS, 53 with ICP, and 48 with UCCLP were included in the study. The children were drawn from the group of all Danish children with cleft born 1976 through 1981. METHOD: Three-projection infant cephalometry. RESULTS: The craniofacial morphology in the RS, ICP, and UCCLP groups had some common characteristics: a wide maxilla with decreased length and posterior height, wide nasal cavity, short mandible, bimaxillary retrognathia, and reduced pharyngeal airway. The shortest mandible was found in RS followed by ICP and UCCLP; the pharyngeal airway was reduced in RS and ICP, compared with UCCLP; and the maxillary complex and nasal cavity were wider in UCCLP than in the other groups. The amount of facial growth in all three groups was similar; however, the direction was more vertical in UCCLP than in RS and ICP. CONCLUSION: Except for a shorter RS mandible, the facial morphology of infants with RS and ICP was similar, as was the amount of facial growth and the growth pattern. The differences in facial morphology can be ascribed to the difference in the primary anomaly. The amount of facial growth was similar in the three groups; however, the growth pattern showed a more vertical direction in UCCLP than in RS and ICP. It is hypothesized that the mandibular retrognathia in RS represents the outer end of that of the ICP distribution.

Analysis of Variance↗
PubMed1999

[Assessing the results of the multimodal treatment of patients with combined jaw deformities].

The results of treatment of patients with congenital combined deformations of the jaws are assessed after 6 months to 8 years. The results are analyzed for 96 patients with maxillary micro- or retrognathia and mandibular macro- or prognathia, maxillary macro- or prognathia, and mandibular micro- or retrognathia. Remote results were assessed by clinical, x-ray, and functional methods of examination. Stable esthetic and functional results were attained in all patients, which were observed during both immediate and remote periods of follow-up. No signs of deformation relapses were observed in any case.

Adolescent↗
PubMed1999

[Cephalometric analysis of the craniofacial bony structures in patients with obstructive sleep apnea].

OBJECTIVE: To explore the craniofacial bony structure abnormalities and their possible contributions to the apneic severity in patients with obstructive sleep apnea (OSA). METHODS: One-night polysomnographic examination and a lateral cephalogram were performed in 102 male OSA patients and 37 healthy men. Sixteen variables representing craniofacial angle, distances and areas were measured by a computer software (NIH Image). RESULTS: Compared with normal subjects, OSA patients presented with: a shortened cranial base (71 +/- 4) mm: (74 +/- 3) mm, (P < 0.001), maxillum (52 +/- 5) mm: (55 +/- 4) mm, (P < 0.01), mandible (74 +/- 5) mm: (77 +/- 6) mm, (P < 0.05) and bony nasopharygeal airway dimensions, a more inferiorly and anteriorly placed hyoid bone, and retrognathia deformity. Multiple stepwise regression analysis disclosed that maxilla deficiency, retrognathia and hyoid bone misposition were important contributing factors to the apneic severity (R2 = 0.447, F = 15.471, P < 0.0001). CONCLUSIONS: OSA patients had certain craniofacial bony structure defects and cephalometric analysis of these defects is useful both in the investigation of the pathogenesis and the selection of an optimel treatment modality for each OSA patients.

Adult↗
PubMed1989

[Dentofacial morphology of obstructive sleep apnea syndrome patients].

Sleep apnea syndrome is a condition characterized by recurrent interruption of breathing during sleep. Triad of symptoms for the disease are insomnia, daytime sleepiness and snoring. Recently, the patients complained of these symptoms have progressively increased. And so serious attention has been given to investigate the entity of this new clinical syndrome in medical and dental aspects. Three types of sleep apnea are classified; central, obstructive and mixed type. Most of patients identified this syndrome include obstructive or mixed types of sleep apnea. Obstructive sleep apnea has been presumed to have close relationships with obesity, micrognathia, retrognathia, tonsillary hypertrophy, tongue hypertrophy and so on. This study was designed to evaluate the characteristics of the dentofacial morphology in the obstructive, included mixed, sleep apnea syndrome (OSA) patients. The samples consisted of 25 adult male patients (average age of 48 years 2 months) with OSA as diagnosed by the division of respiratory disease, department of internal medicine, Kanazawa Medical University Hospital. One lateral radiographic cephalogram with the teeth in occlusion and the recording of somatic measurements, body weight and height, were obtained for each patient at visiting our orthodontic clinic. On the lateral cephalograms of whole samples, 10 angular and 6 linear measurements were carried out. Simultaneously, the body mass index (BMI) was assessed for each patient. Based on the cephalometric and somatometric measurements, the pathogenesis of obstructive sleep apnea was discussed in association with the obesity and dentofacial morphology. Results were summarized as follows: 1. The body mass index (kg/m2) ranged between 21.0 to 45.7, with a mean value of 31.0 for OSA patients. Of whom, 3 patients were mildly obese (25 or more of BMI) and 12 patients severely obese (exceeding 30 of BMI). 2. Compared with normal control samples, the means of cephalometric variables of whole samples showed the tendency of micrognathia, large gonial angle, protruded maxilla and large cranial base. 3. By principal component analysis, it was revealed that the components for the shape and position of the mandible were of more importance in OSA patients than controls. 4. Discriminatory analysis clarified significant differences in dentofacial morphology between 12 obese and 13 non-obese patients. 5. The dentofacial morphology in non-obese patients were characterized by retrognathia, micrognathia, large gonial angle and small maxilla. In accordance with previous reports, the patients with OSA were presented the tendency of obesity and micrognathia. Furthermore it was revealed that particularly in non-obese OSA patients the morphological abnormalities might be the major contributor to the pathogenesis of sleep apnea.

Adult↗
PubMed1987

Maxillonasal dysplasia (Binder's syndrome). A study of craniofacial morphology, associated malformations and familial relations.

The aims of the present thesis were to study the craniofacial morphology and growth pattern in individuals with maxillonasal dysplasia, to check the presence of associated malformations and to elucidate the etiological factors. The thesis was based on five investigations. A cross-sectional cephalometric study of the craniofacial morphology of 97 Binder-subjects was performed. Comparison of 36 variables measured was made between these subjects and a control material, consisting of children with orthognathic profile and normal occlusion, matched for sex and age. Highly significant differences were found in a number of variables, correlated to the maxillary retrognathia and associated with the very characteristic appearance of individuals with maxillonasal dysplasia. The growth and development was studied in two longitudinal groups: one consisting of 13 orthodontically untreated children and one consisting of 15 orthodontically treated patients at corresponding ages. The untreated children were compared with the same reference material as in the crossectional study. It was then shown that all linear dimensions changed with age, parallel with normal growth and to about the same extent, although on another level for some variables. Comparison between the two longitudinal groups was made in order to study the possible positive effect of orthodontic treatment on craniofacial growth in Binder-subjects. No such influence could be stated. However, the graphical description of the groups, by means of facial polygons, revealed marked divergences even at early ages, remaining throughout the growth period. In the more severe cases, the maxillary retrognathia was aggravated by the craniofacial morphology of the lower face, similar to that of Class III-anomalies. In these cases, the orthodontic treatment has to be combined with surgical correction after completed growth. Associated malformations of the cervical spine were radiographically examined in 43 Binder-subjects. Defects of varying severity were observed in 44.2% of the patients. No clinical symptoms were found at early ages. An etiological study of 50 patients with maxillonasal dysplasia was performed to elucidate possible genetic factors. The results indicated two possible hypotheses: either the syndrome is caused by an autosomal recessive allele or it is of a quantitative multifactorial character with a threshold. The results did not disprove the possibility of a genetic etiology, although it might not be the full explanation for the syndrome. In conclusion, individuals with maxillonasal dysplasia shall be subjected to a thorough treatment planning in collaboration between orthodontists and surgeons.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1983

Duplication 9q34 syndrome.

Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal implantation of the thumb, increased space between the first and second fingers, and excess digital creases. Marfan syndrome was a provisional diagnosis for several cases prior to cytogenetic analysis. Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal bridge, small mouth, thin upper lip with down-turned corners, and slight retrognathia. In older children, retrognathia is diminished and the nose becomes long and narrow. The new culture and chromosome banding techniques enable sorting of cases with the distal dup 9q phenotype into two groups. The cases with a longer dup 9q are more likely to develop with life-threatening congenital anomalies. The cases with the shorter dup 9q34 have a less severe long-term prognosis and will benefit, together with their parents, from special education. Female carriers of the inv ins(9) (q22.1q34.3q34.1) have about a 31% risk in each pregnancy to conceive a fetus affected by the dup 9q34 syndrome. A comparable figure is not yet available for male carriers.

Abnormalities, Multiple↗
PubMed1977

[Hypersomnia with periodic apnea in a patient with acquired micrognathism].

A case presenting association of sleep apnea with daytime hypersomnolence and retrognathia is described. Sleep laboratory evaluation showed severe discontinuous hypoxemia and a mean of 250 upper airway obstructions. The patient was treated successfully by surgical correction of the retrognathia.

Airway Obstruction↗
PubMedDate not supplied

Radiologic evaluation of irradiated cartilage grafts on the facial skeleton of sheep.

Augmentation mentoplasty is a commonly performed procedure for correction of retrognathia and microgenia. Implantable Silastic prostheses have become the mainstay of therapy, but have some disadvantages. One of the most important complications is erosion of the underlying mandible. An attempt was made to produce an experimental animal model to test the efficacy of irradiated costochondral cartilage in this regard. In order to prevent a biological material from eroding the underlying bone, the irradiated sheep cartilage grafts were placed subperiosteally, deep to a pair of large muscles of facial expression in five Suffolk sheep. Irradiated cartilage was used as the test material and merthiolate-treated cartilage as the control. Only 1 of the 20 grafts showed any absorption after 1 year, and this was only 1 mm in depth. Because of the meager amount of absorption of irradiated cartilage grafts, the ease with which they can be carved, and their ready availability, they would appear to be ideal implants for chin augmentation.

Animals↗
PubMed1979

Partial trisomy 4q in two unrelated cases.

Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously reported ones.

Abnormalities, Multiple↗