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PubMed2005

Maxillofacial and dental manifestations in a patient with mandibulo-acral dysplasia.

Mandibulo-acral dysplasia (MAD) is a rare condition characterized by mandibular hypoplasia, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and short stature. This report presents a patient with MAD, suffering from difficulty in mastication and speech, together with limited lip closure and aesthetic problems related to the clinical outcomes of the syndrome. The aim of reporting this case is to detail the first widely determined dental and maxillofacial abnormalities of a rare syndrome, mandibulo-acral dysplasia, and to contribute to the data regarding the etiology of consanguinity.

Adult↗
PubMed2003

Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review.

OBJECTIVES: The aim of this study was to determine the clinical and radiological presentation of cleidocranial dysplasia (CCD) in our patient group and to compare them with other reported cases by a systematic review (SR) of the literature. METHODS: The study comprises two elements, a complete series of all diagnosed patients at the Center for Craniofacial Genetics at the University of Regensburg, Germany, and a SR. Relevant literature was identified by electronic databases, review of citation lists and hand searching of key journals. The principal selection criterion was that the study should contain as many pertinent cases as possible. The presented signs and symptoms were assigned to the following categories: "supernumerary teeth", "failure of eruption", "hypoplastic maxilla" and "clavicular sign". Additionally, the family history was taken into account. RESULTS: From the 410 English, German or French articles, 40 single case presentations and 17 multiple case studies remained that met the selection criteria. This report reviews the data of 283 patients with CCD including our own patient cohort of 24 individuals. Dental signs such as supernumerary teeth and eruption failure were expressed in over 93.5%. Skeletal symptoms such as hypoplastic maxilla and the clavicular sign were exhibited in over 84.3%. The prevalence of spontaneous mutations differs slightly when comparing the single case studies (72.0%) with our patient data (58.3%). The fraction of spontaneous mutations in multiple case studies was 5.0%. CONCLUSION: The diagnosis of CCD can be difficult when typical features are not clearly expressed. Since the multiple case studies concentrated on specific clinical aspects, an overall ranking including all associated findings was not possible. Owing to their prevalence, we recommend referencing to the described list of clinical signs as major symptoms for the pathognomy in CCD, since they are infrequent in other conditions and in the general population. To categorize the expression of CCD, more interdisciplinary studies are necessary. Nevertheless, a subjective classification is possible according to the related restrictions in the patients' quality of life.

Cleidocranial Dysplasia↗
PubMed1980

Dentistry on stamps.

Explore the source record for details and available documents.

History, 16th Century↗
PubMed1995

Molecular biology experimental strategies for craniofacial-oral-dental dysmorphology.

This paper is a minireview of molecular biology experimental strategies for problems within craniofacial-oral-dental biology. Many of these strategies have already made remarkable contributions towards understanding the complex developmental processes associated with craniofacial biology. For example, the utilization of these strategies has resulted in the successful mapping of approximately 70 genes related to craniofacial anomalies (e.g., Pax, retinoic acid receptors, cadhedrins, aggrecan, cell adhesion molecules, substrate adhesion molecules, etc.), 30 genes related to dental tissue disorders (e.g., BMPs, bone morphogenetic proteins; dentin phosphoproteins, dentin sialoglycoproteins, enamelins, amelogenins), 20 genes related to facial clefting defects (e.g., Hox genes, transforming growth factor alpha), and 3 genes related to craniosynostosis (e.g., Msx-2). This minireview highlights selected examples of scientific progress derived from the following experimental strategies: (i) molecular approaches to the organization of the mouse and human chromosomes, with the mapping of specific gene sequences linked to human diseases (e.g., amelogenesis imperfecta, Boston type craniosynostosis, Rieger's syndrome, Treacher Collins syndrome); (ii) reverse genetic approaches for studies of gene function; (iii) homologous recombinations and the advances from "knock-out" transgenic mouse models for human craniofacial-oral-dental diseases; (iv) mutational analyses of congenital craniofacial-oral-dental dysmorphogenesis; (v) structural biology studies using computer-assisted molecular modeling for protein-protein, protein-nucleic acid and protein-inorganic interactions; (vi) computer modeling of genetic paradigms; and (vii) a cluster of newer methodologies including computer-assisted morphometry, new microinjection techniques, new cell membrane and intracellular dyes, and a number of new RNA and DNA viral constructs for the delivery of genes to enhance the resolution of cell fate maps, cell lineage studies and gene therapy approaches to human diseases.

Animals↗
PubMed2000

[Syndromes 19. Fetal alcohol syndrome].

Foetal alcohol syndrome is a syndrome with a rather high incidence. It is characterized by mental retardation, growth deficiency, a striking facial appearance (a.o. short palpebral fissures, short, upturned nose, hypoplastic philtrum, hypoplastic maxilla). Malocclusion and a disturbed facial growth may occur. Mental retardation can interfere with dental treatment.

Child, Preschool↗
PubMedDate not supplied

[The self-regulation of maxillodental anomalies in preschoolers and schoolchildren].

The authors analyze the data that characterize the incidence and peaks of autoregulation of maxillodental abnormalities in 535 children aged 2 to 16. Autoregulation of deep occlusion was found to occur at the age of 4-7, of prognathic occlusion at 2-5, of the cross occlusion and of abnormalities of the position of individual teeth at the age of 7-10.

Adolescent↗