Osteogenesis imperfecta (odontogenesis imperfecta) Report of a case.
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A syndrome of scanty, fine, curled hair, thin dysplastic nails, taurodontic molars, hypoplastic-hypomature enamel, dysplasia of dentin, and hypohidrosis segregating as an autosomal dominant trait is described in a Japanese family. The patients received repeated doses of tetracycline during odontogenesis which fortuitously assisted in interpreting the pathogenesis of the dentin defect. The condition was previously described as familial congenital ectodermal dysplasia by Westerholm and as odontogenesis imperfecta by Siirilä and Heikinheimo. It is suggested that the name trichoonychodental (TOD) syndrome is a better descriptive term for the condition.
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Craniofacial development provides a number of opportunities to investigate the cellular and molecular biology of morphogenesis, cytodifferentiation, tissue-specific extracellular matrix (ECM) formations, and biomineralization. Regulatory processes associated with mandibular morphogenesis and specifically tooth formation are being investigated by the identification of when and where molecular determinants such as cell adhesion molecules (CAMs), substrate adhesion molecules (SAMs), and tissue-specific structural gene products are expressed during sequential developmental stages. Based upon in vitro organotypic culture studies in serumless, chemically defined medium, instructive and permissive signaling has been found to be required for both mandibular and dental morphogenesis and cytodifferentiation. For example, intrinsic developmental instructions (autocrine and paracrine factors), independent of long-range hormonal or exogenous growth factors, mediate morphogenesis from the initiation of the dental lamina through crown and initial root stages of tooth development. This review summarizes recent results using experimental embryology, organ culture, recombinant DNA technology, and immunocytology to elucidate mechanisms responsive to instructive epithelial-mesenchymal interactions associated with mandibular morphogenesis, tooth positional information, and subsequent tooth crown and initial root development.
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Dentinogenesis imperfecta (DGI) is characterized by discolored teeth with an opalescent sheen and dentin that fails to support enamel, causing it to easily chip. Two new studies show that DGI is associated with mutations in DSPP, a gene encoding dentin sialophosphoprotein that is processed into two proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). These are key components of the dentin extracellular matrix (DECM). Notably, missense mutations in DSPP are also associated with progressive hearing loss.
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The anomalies of dental structure are quite common in pediatric dentistry; these anomalies can involve separately or in the same time enamel, dentin or cementum and they are due to many factors acting during odontogenesis and istogenesis. The Authors analyse these abnormalities and describe a personal case.