Cases reported "Cleidocranial Dysplasia"

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1/20. Combined surgical and orthodontic management of the oral abnormalities in children with cleidocranial dysplasia.

    Children with cleidocranial dysplasia have dental abnormalities which combine to prevent normal tooth eruption, and which if untreated may result in abnormal facial and jaw growth. A technique combining orthodontics and oral surgery has resulted in the establishment of excellent occlusion and facial appearance in these patients. Recent advances in direct enamel bonding techniques for orthondontic attachments have permitted a conservative surgical approach with minimal bone removal during surgery to expose unerupted teeth prior to orthodontic treatment.
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keywords = tooth eruption, tooth, eruption
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2/20. Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia.

    Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia (CCD) in man. Recently, a mouse model of CCD has been generated (Cbfal /-) [Komori et al., 1997], and disturbances of osteoclast differentiation have been documented. It has been shown that these animals exhibit hypoplastic clavicles and nasal bones, and retarded ossification of parietal, interparietal, and supraoccipital bones. humans with CCD show all these features, including severely retarded ossification of the cranial base, strongly suggesting that both intramembranous ossification and endochondral ossification are affected. In addition, CCD patients have multiple supernumerary teeth and delayed tooth eruption. The present report presents 3D reconstructions of computerised tomography (CT) scans of the craniofacial region of a CCD boy examined at both 1 and 7 years of age. The anomalies in craniofacial skeleton and teeth are analysed and compared to the findings of our previous clinical studies and to the findings in the animal model. Based on the available information, we suggest that osteoblast, osteoclast, and dentinoclast differentiation may be disturbed in CCD.
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keywords = tooth eruption, tooth, eruption
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3/20. cleidocranial dysplasia: modern concepts of treatment and a report of an orthodontic resistant case requiring a restorative solution.

    A case is presented of a young boy with cleidocranial dysplasia, whose multiple supernumerary teeth prevented the eruption of most of his permanent teeth. His maxillary incisor teeth failed to erupt following removal of anterior supernumerary elements and orthodontic traction. Lack of abutment teeth and a difficult maxillary base made prosthetic treatment almost impossible. A horseshoe acrylic denture retained by milled crowns bonded to the deciduous canines and a maxillary first molar proved a very successful restoration. The problems of treating this group of patients are discussed.
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keywords = eruption
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4/20. A case of Japanese cleidocranial dysplasia with a CBFA1 frameshift mutation.

    cleidocranial dysplasia (CCD), which is caused by mutations of the core binding factor alpha 1 (CBFA1)/runt-related gene 2 (Runx2), is an autosomal, dominantly inherited disorder of high penetrance affecting skeletal ossification and tooth development. Recently, we found a novel frameshift mutation 383-T-insertion (S128F) in exon 3 in the CBFA1 gene of a Japanese classic CCD patient. We describe our detailed investigation of the patient with CCD associated with the CBFA1 mutation. The patient showed the characteristic expression of CCD, such as dysplasia of the clavicles, patent fontanelles, short stature, impacted supernumerary teeth, and delayed eruption of the permanent teeth. In addition to these characteristics, orthopantomography delayed ossification of the mandibular symphysis and a three-dimensional computed tomograph (3D-CT) analysis showed hypoplasia of the zygomatic arch. Furthermore, the acellular cementum of an impacted supernumerary tooth was absent in this patient. Thus, the CBFA1 mutation was critical for the pathogenesis of CCD in this patient.
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ranking = 0.16466457251624
keywords = tooth, eruption
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5/20. Histological and analytical studies of a tooth in a patient with cleidocranial dysostosis.

    A histopathological and analytical study of a permanent tooth from a patient with cleidocranial dysostosis (CCD) was performed. The patient was a 47-year-old woman, who had 10 erupted permanent teeth and 2 partially erupted and 19 completely impacted teeth, including supernumerary teeth. The erupted right upper premolar was extracted and observed using a light microscope and an electron probe X-ray microanalyzer (EPMA). Findings showed enamel hypoplasia, predominantly irregular globular dentin and Tomes' granular layer, and a complete lack of cellular cementum in the ground section. The incremental von Ebner and counter Owen lines were obscure. Comparative quantitative analysis using the EPMA showed that the quantities of calcium and phosphate were lower in the enamel and dentin than those of the control sample.
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ranking = 0.37947046031322
keywords = tooth
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6/20. cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

    cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CCD. We investigated a mother and daughter with features of CCD presenting with reduced plasma alkaline phosphatase activity, increased urinary phosphoethanolamine excretion and decreased bone density. The latter findings were suggestive of hypophophatasia but mutation analysis showed no mutation in the tissue-nonspecific alkaline phosphatase gene (TNSALP; MIM 171760). However, a heterozygous mutation (Arg169Pro caused by nucleotide change 506G > C) was detected in the RUNX2 gene. Metabolic alterations gradually improved in both mother and daughter but bone-specific alkaline phosphatase remained low (less than 30% of normal) and mild phosphoethanolaminuria persisted. Recent studies in the Cbfa1 knock-out mouse showed decreased expression of alkaline phosphatase in differentiating bone. CONCLUSION: we suggest that the observed metabolic alterations are secondary to the RUNX2 gene mutation affecting early bone maturation and turnover. This is the first description of biochemical findings of hypophosphatasia in patients with cleidocranial dysplasia.
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ranking = 0.075894092062645
keywords = tooth
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7/20. Severe cleidocranial dysplasia can mimic hypophosphatasia.

    cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene. It is characterised by macrocephaly with persistently open sutures, absent or hypoplastic clavicles, dental anomalies, and delayed ossification of the pubic bones. A few patients have been reported with recurrent fractures or osteoporosis but these are not considered features of the disease. We report a patient with classical findings of cleidocranial dysplasia: markedly hypoplastic clavicles, delayed ossification of the pubic rami, multiple pseudoepiphyses of the metacarpals, and dental anomalies including delayed eruption of permanent dentition and multiple supernumerary teeth. The patient also had radiographic and biochemical features of hypophosphatasia (OMIM 241500, 146300) and was initially diagnosed with this condition. serum alkaline phosphatase activity has been consistently reduced and specific enzyme substrates, phosphoethanolamine and pyridoxal-5'-phosphate, have been elevated. However, no mutations were found on direct sequencing of the tissue-nonspecific alkaline phosphatase ( TNSALP) gene using a protocol that detects up to 94% of all mutations causing hypophosphatasia. CONCLUSION: We propose that a subset of patients with cleidocranial dysplasia have features of secondary hypophosphatasia due to decreased expression of the tissue-nonspecific alkaline phosphatase gene.
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keywords = eruption
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8/20. Dental treatment strategies in cleidocranial dysplasia.

    Based on the findings of our recent longitudinal study on the abnormalities of the dentition in cleidocranial dysplasia (CCD), a hypothesis has been proposed, which makes it possible to predict time of onset of formation of supernumerary teeth and their location in the jaws. It was found that a diagnosis should be made early so that formation of supernumerary teeth can be diagnosed and early intervention undertaken. It should be possible to diagnose supernumerary incisors at about 5-7 years of age and supernumerary canines and premolars a few years later. When root length of the normal permanent teeth has reached about one third of its final length, the overlying supernumerary teeth should be removed, together with overlying bone and primary teeth. In regions where no supernumerary teeth are formed, eruption may also be improved by removal of the primary teeth and surgical exposure of the underlying permanent teeth. Conventional orthodontic treatment and eventually autotransplantation of teeth may still be necessary in the future, but it can be anticipated that the new strategy, with much earlier intervention, will materially reduce the extent of surgical and orthodontic interventions, which have previously been of extremely long duration, tedious to the patients and often of limited success.
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ranking = 0.012876388390955
keywords = eruption
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9/20. Cleido cranial dysplasia: report of a family.

    A family case of cleidocranial dysplasia is presented. A mother and two adolescent girls were examined. In all three cases, a radiological series was performed over the entire body. Generalized dysplasia in bones, prolonged retention of primary teeth, and delayed eruption of permanent, as well as supernumerary teeth was diagnosed. The citogenetic study with GTG band showed normal 46, XX. Bilateral audiometry in the mother demonstrated a mild to moderate hypoacustic condition. Radiological findings are presented and the importance of early diagnosis is discussed.
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ranking = 0.012876388390955
keywords = eruption
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10/20. Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.

    cleidocranial dysplasia is an autosomal dominant, generalised skeletal disorder characterised by variable clavicular hypoplasia, frontal bossing, multiple Wormian bones, and delayed eruption of the teeth. The gene locus for this syndrome has not yet been assigned. Three individuals with manifestations of cleidocranial dysplasia associated with rearrangements of chromosome 8q22 are described. The evidence presented suggests that the gene for cleidocranial dysplasia may be located on chromosome 8q in humans in a region showing homology to mouse chromosome 3.
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ranking = 0.012876388390955
keywords = eruption
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