An etiologic study of maxillonasal dysplasia--Binder's syndrome

As the etiology of maxillonasal dysplasia (Binder's syndrome) is unclear, an attempt has been made in this study to check the presence of hereditary factors. Pedigrees have been established for 50 patients with the syndrome who had actively requested orthodontic treatment and/or plastic surgery and for whom hereditary connections had been found in 36%. In some of the subjects the propositi volunteered further family data, which were included in the study. The total number thereby became 60 families. The results did not disprove the possibility of a genetic etiology although the suspicion of an autosomal recessive inheritance may not be the full explanation for the syndrome. If the syndrome is in fact of a genetic origin, one possibility is that the syndrome is indeed inherited as an autosomal recessive trait. In that case, the hypothesis of an incomplete penetrance must be added. Another possibility is that the syndrome is a threshold character with a genetically multifactorial background. Since no frequency counts among populations are available, further studies are required to collect families with maxillonasal dysplasia and to obtain population frequency data for the syndrome.     

Maxillonasal dysplasia (Binder's syndrome): a critical review and case study

Binder's syndrome (maxillonasal dysplasia) is a disorder of unknown etiology characterized by nasomaxillary hypoplasia and a 40-50% association of an underdeveloped frontal sinus and cervicospinal abnormalities. The midfacial retrusion is similar to that in chondrodysplasia punctata, resulting in confusion regarding diagnosis. This paper outlines the distinguishing features of Binder's syndrome, the treatment considerations, and presents 24 patients seen and treated. The facial and skeletal characteristics and developmental findings are emphasized to affirm the diagnosis of Binder's syndrome. A familial finding of Binder's features in five patients raises the possibility of a genetic mechanism, a previously undisclosed finding.     

Hereditary gingival fibromatosis with a recessive mode of inheritance. Case reports

Hereditary gingival fibromatosis is characterized by varying degrees of attached gingival hyperplasia and may in rare cases present as a feature of a generalized syndrome. It is usually inherited as an autosomal dominant condition though recessive forms are described. The dental and genetic features of an affected brother and sister with a probably unique autosomal recessive hereditary fibromatosis syndrome are presented.     

Surgical approach in severe cases of maxillonasal dysplasia (Binder's syndrome)

Binder's syndrome or maxillonasal dysplasia is a malformation characterized by an extremely flat and retruded nose. Severe cases of the syndrome do also have a retrognatic maxilla often combined with an open bite deformity which demands a combined surgical solution with both maxillary osteotomy and secondary nose correction. The two-stage surgical procedure in the advanced cases of maxillonasal dysplasia has in our opinion been preferable to a Le Fort II osteotomy. Two cases with severe Binder's syndrome where the two-stage procedure has been performed will be presented and the surgical approach discussed.     

Hereditary aspects and classification of hereditary amelogenesis imperfecta

In an epidemiologic study in the middle of Sweden comprising 425 000 children age 3-19 yr, 105 children were diagnosed as having hereditary amelogenesis imperfecta (HAI). The material then was primarily classified upon clinical criteria into different subgroups either associated to a hypoplastic or to a hypomineralized type of HAI. Analyzing available genetic data obtained from 95 children in 76 families and further 11 adults in 10 families, eight different entities of HAI could be identified in a classification of HAI. In both of the basic types of HAI, the hypoplastic and the hypomineralized, autosomal dominance was the most common mode of inheritance, even if an autosomal recessive inheritance could be identified in some of the subgroups of HAI. The hypoplastic type (rough-pitted), autosomal dominance with incomplete penetrance was dominating in the material, 47 out of 105 cases. The clinical classification seemed to be relevant when testing the material on a genetic basis showing that the clinical criteria provide a strong support for a classification of HAI.     

Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta

The amelogenesis imperfectas (AI) are a group of hereditary enamel defects characterized by clinical and genetic diversity. The most common AI types are inherited as autosomal traits. Three mutations of the enamelin (ENAM) gene have been found in cases of autosomal dominant hypoplastic AI. The gene(s) responsible for hypocalcified forms of AI have not been identified, although a number of autosomal genes have been proposed as candidates for AI based on their expression by ameloblasts, including ameloblastin and enamelin (chromosome 4q13.3), tuftelin (chromosome 1q21), enamelysin (chromosome 11q22.3-q23) and kallikrein 4 (chromosome 19q13.3-q13.4). To localize the gene(s) responsible for autosomal dominant hypocalcified AI, we evaluated support for/against linkage of AI to genetic markers spanning five AI candidate genes in two extended families. Our data excluded all proposed candidate gene regions as causal for autosomal dominant hypocalcified AI in these families. These linkage findings provide further evidence for genetic heterogeneity among families with autosomal dominant AI and indicate that, at least, some forms of autosomal dominant hypocalcified AI are not caused by a gene in the five most commonly reported AI candidate genes.     

Current concepts on gingival fibromatosis‐related syndromes

Gingival fibromatosis is a rare, benign, slowly‐growing fibrous overgrowth of the gingiva, with great genetic and clinical heterogeneity. Gingival fibromatosis/overgrowth can be inherited as an isolated trait (hereditary gingival fibromatosis) and/or as a component of a syndrome, or it can be drug induced. As a clinical manifestation of a syndrome, gingival fibromatosis is usually associated with generalized hypertrichosis, mental retardation, or epilepsy. Gingival fibromatosis and its related syndromes are mainly inherited in an autosomal‐dominant manner, but autosomal‐recessive inheritance has also been reported. Clinical syndromic presentation includes Zimmermann–Laband syndrome, Ramon syndrome, Rutherford syndrome, Cowden syndrome, Cross syndrome, Göhlich–Ratmann syndrome, Avani syndrome, and I‐cell disease. However, a phenotypic overlap has been suggested, as many combinations of their systemic manifestations have been reported. Treatment of choice is usually gingivectomy with gingivoplasty. Before any therapy, clinical practitioners must take into consideration the clinical course of a particular syndrome and every possible functional and esthetic disorder.     

Larsen syndrome: a review of the literature and case report

Larsen syndrome is a rare genetic disorder characterized by multiple dislocations of the large joints and characteristic craniofacial abnormalities. It exists in both a severe autosomal recessive form and a mild autosomal dominant variety. To date, only three authors have reported oral findings for this syndrome. This paper describes an 8‐year‐old Chinese boy with Larsen syndrome who had advanced periodontitis. The need for periodontal therapy and regular monitoring of such patients has been highlighted.     

Van der Woude syndrome in twins

This article discusses monozygotic twin patients with Van der Woude syndrome, the most common form of syndromic cleft lip and palate, who have concordant manifestations. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with clinical features, including lower lip sinuses with a cleft lip, cleft palate, or both. Some mutations have been found to cause this disorder. Genetic counseling and informing patients about inheritance is crucial. The appearance, etiology, genetic aspects, differential diagnosis, and treatment modalities are discussed. To the authors' knowledge, this is the third report of monozygotic concordant twins with this syndrome in the literature.     

Maxillonasal dysplasia, mandibular retrognathia and cleft palate

The present paper describes the craniofacial form of subjects with maxillonasal dysplasia and reports its occurrence in two siblings who also have cleft palate and mandibular retrognathia. Maxillonasal dysplasia and a cleft deformity may be illustrative of a field effect of a teratogen on developing midface components or even suggestive of a possible inherited etiology.     

Maxillonasal osteochondral complex repair in maxillonasal dysplasia

Surgical treatment of maxillonasal dysplasia or Binder syndrome is a challenge for surgeons. Its aim is to replace or substitute the missing or malformed anatomic structures. The authors report a comprehensive analysis for the understanding of the mechanisms resulting in the lack of maxillonasal development observed in Binder syndrome. The evolution of the surgical treatment due to facial function analysis is explained, and the surgical treatment of 20 consecutive cases over the last 20 years is reviewed, illustrated by three-dimensional reconstruction to emphasize the choice made and the results obtained. Bone grafts were always performed, and an arrow-shaped graft for the neospine reconstruction is described. This analysis allowed the authors to ameliorate patient self-image subsequently to facial contour improvement.     

Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia

Osteopetrosis is a group of genetic bone disorders. There are three types of osteopetrosis: autosomal recessive osteopetrosis (ARO), autosomal dominant osteopetrosis type II (ADO II), and intermediate autosomal recessive osteopetrosis (IARO). The prevalence of ADO II is about 1:100,000, while no more than 20 cases of IARO have been reported worldwide. We present the first Chinese IARO patient with a novel homozygous variant in CLCN7 gene (p. Pro470Leu) and an ADO II patient with a heterozygous variant in CLCN7 gene (p. Arg286Trp). In addition to general osteosclerosis, the striking features of these two patients are unerupted teeth with root dysplasia. We speculate that ClC-7 in different tooth cells may contribute directly to the root development, the defect of ClC-7 may have a dose dependent effect on the phenotype of root dysplasia, and the tooth position may also affect the root phenotype with dysfunctional ClC-7.     

Problems of genetic model testing in early onset periodontitis

Familial aggregation of early onset or juvenile periodontitis (JP), a disorder that varies in expression and age of onset, has been recognized for some time. Autosomal recessive and X-linked inheritance patterns have been suggested, and one large pedigree has demonstrated autosomal dominant inheritance. The variability and age limitations in clinical phenotypic diagnosis present several problems to genetic analysis, because information on members of the youngest and older generations may be lost to the analysis. The purpose of the present study was to elucidate the genetic basis of JP by formal pedigree analysis and comparison of competing genetic models. Twenty-eight families were included, with general and specific autosomal models, and an X-linked model being compared. The autosomal recessive model provided the most parsimonious explanation of the data, and its likelihood was not significantly different from the more general model. Likelihoods for the sporadic (nongenetic) and X-linked models were considerably lower than the autosomal models. While comparison of genetic models suggests recessive inheritance of JP, the serious complications to pedigree analysis posed by limitations warns against acceptance of this conclusion, without more exhaustive evaluation of: (1) a more extensive collection of family data, (2) more complete investigation of the effects of age limitations on comparisons among competing models, and (3) elucidation of the importance of diagnosis and phenotype assignment of adults through past dental records.     

Conservative restoration with resin composites of a case of amelogenesis imperfecta

Amelogenesis imperfecta (AI) is an inherited enamel dysplasia involving both dentitions with no other systemic effects. The hereditary pattern is autosomal or X-related dominant or recessive. Its prevalence is approximately 1:14,000-1:16,000. It can be classified as hypocalcified, hypoplastic and hypomaturated according to clinical, radiological, histological and hereditary findings. This study presents a case of hypomaturated type AI in a 16-year-old young man that was successfully treated with different types of resin composites. The patient was regularly recalled during the one-year postoperative period. Radiographic and clinical examinations at recall revealed no evidence of complications associated with the restored teeth or their supporting structures.     

Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families.

OBJECTIVE: To analyze linkage of five candidate regions for nonsyndromic cleft lip with or without palate (CLP) on chromosome 2p13, 4q, 6p23, and 19q13; in addition chromosome 1q32, the locus for van der Woude syndrome, on Swedish CLP families. DESIGN: Three to five linked microsatellite markers were selected from each candidate region. Polymerase chain reaction (PCR) with fluorescent-labeled microsatellite markers was performed on DNA samples from the participating families. Electrophoresis of the PCR products was performed on a laser-fluorescent DNA sequencer. The genotype data were analyzed with multipoint linkage analysis. Modes of inheritance tested included two autosomal dominant, an autosomal recessive, and a nonparametric model. Multipoint logarithm of odds (LOD) scores were also calculated by assuming genetic heterogeneity. PARTICIPANTS: Nineteen Swedish multigenerational families with at least two first-degree relatives affected with CLP. Greater than 50% of the families studied show vertical transmission of the clefting phenotype and both inter- and intrafamilial variability were noted. RESULTS: Cumulative multipoint LOD scores for the whole group of families calculated under autosomal dominant modes of inheritance were negative in all regions and less than -2 except chromosome 6p23. LOD scores calculated under recessive inheritance and the nonparametric model were inconclusive. There was no significant evidence of genetic heterogeneity among the sample group. CONCLUSIONS: The group of Swedish CLP families did not demonstrate significant linkage to any of the five candidate regions examined. This might suggest a new but yet unknown CLP locus or loci in this family group. However, because linkage could not be excluded in some individual families, they should still be tested with candidate genes from these regions.     

Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta.

Amelogenesis imperfecta (AI) was detected in nine of 70,359 school children surveyed, a prevalence approximating 1:8,000. Of these cases, eight were the hypoplastic type and one the snow-capped hypomaturation type. Family studies demonstrated that hypoplastic AI was an autosomal dominant trait in two children and an autosomal recessive in six. Of three additional families referred to our clinic, two had autosomal recessive hypoplastic AI and one the hypocalcified type, inherited as an autosomal dominant trait. In four families, a new type of local hypoplastic autosomal recessive AI was observed, characterized by horizontal pitting and grooving more pronounced in the middle third of the crowns of most teeth in both dentitions.     

Ellis-van Creveld syndrome: a case report

Ellis-van Creveld syndrome (EvC) is a disease complex, where all the three embryonic layers appear to be involved. This disorder is also called as Chondroectodermal dysplasia. EvC is an autosomal recessive disorder resulting from mutations in these patients. Mutations in the two genes EVC and EVC2, have been identified to cause the condition. It has been considered as a skeletal dysplasia with an incidence of approximately 1 out of 1,50,000 live births. A high prevalence has been reported among certain populations like Amish and Arabs of Gaza strip. There are more than 300 cases of EvC reported into the literature. About 50-60% of cases have been reported with congenital cardiac malformations.     

Maxillonasal dysplasia (Binder syndrome): a lateral cephalometric assessment

Binder syndrome or maxillonasal dysplasia was first described by Binder in 1962, and is a disorder characterised by nasomaxillary hypoplasia. The records of 33 patients who had been diagnosed clinically with Binder syndrome at the Royal Children's Hospital of Melbourne were examined. Of these 33 patients, 14 were selected because they met the incusion criteria: that they had not had prior surgical and/or orthodontic treatment, and that high-quality lateral cephalometric radiographs were available. The craniofacial morphology of these patients was determined on lateral cephalometric radiographs and compared with published age- and sex-matched norms. In agreement with published studies, the anteroposterior lengths of the anterior cranial base and maxilla were reduced, and the majority of patients had a Class III skeletal relationship. Although the lower incisors tended to be prominent, both overjet and overbite 'ell within the ranges for the normal population. Despite the fact that the orthodontic and surgical treatment for patients with Binder syndrome is normally carried out within specialised units, clinicians should be aware of the variety of ways in which this condition may present.     

Hyper-IgE syndrome caused by DOCK8 mutation with a tumour-like lesion of the lip: a case report

Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation is an immunodeficiency. However, the presentation of a tumour-like lesion of the lip in autosomal recessive hyper-IgE syndrome has not yet been reported. This article reports the case of a 20-year-old man with autosomal recessive hyper-IgE syndrome who presented with a tumour-like lesion of the lip, and hyperplasia and erosion of the gingiva. The clinical manifestations included coarse face and neck skin, a diffuse tumour-like lesion on the upper lip showing a reddish erosive nodular surface with yellowish-white exudation, erosive buccal mucosa, and severe periodontitis. The swollen gingival and palatal mucosa indicated nodular hyperplasia and redness with pseudomembrane. The patient had a significantly increased peripheral blood eosinophil count and serum IgE level and an abnormal T lymphocyte count. His oral lesions improved markedly after prednisolone acetate use and local symptomatic treatment for 2 years. However, the patient unfortunately died of a cerebral infection 6 months after the oral lesions had resolved. The novel features of the labial tumour-like lesion described here extend our understanding of the manifestations of autosomal recessive hyper-IgE syndrome.     

Juvenile periodontitis – no linkage with HLA-antigens

Juvenile periodontitis is a severe though relatively rare inflammatory periodontal disorder of young individuals. Its etiopathogenesis is not known, but an altered immune response has been suggested. Strong indications for an autosomal recessive mode of inheritance of the disease has been shown. As full penetrance excludes association to histocompatibility antigens, the possibility of linkage to the HLA antigens was Studied. Three families, each with 2 siblings expressing juvenile periodontitis, were tissue-typed for HLA A, B, and C locus antigens and 2 families for Dr locus by using the standard two-stage microcytotoxicity test. It was concluded that it is very unlikely that there would be a linkage between the juvenile periodontitis gene and the HLA antigens.