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Dyskeratosis Congenita
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
In DC, severe periodontal destruction occurs due to anomalies in ectodermal-derived structures and a poor response in the patient caused by neutropenia. Patients may have gingival inflammation, bleeding, recession, and bone loss that simulates juvenile periodontitis. In addition, there may be defects in decreased root/crown ratio and mild taurodontism. The evidence of multiple permanent teeth with decreased root/crown ratios may suggest a diagnosis of DC. These patients also may have more incidence of and more severe periodontal disease.
Hereditary Defects of Enamel
Published in Colin Robinson, Jennifer Kirkham, Roger Shore, Dental Enamel, 2017
Enamel hypoplasia and taurodontism (apical displacement of root furcation producing an elongated pulp chamber) are the most consistent features of TDO.24 While individuals with TDO are usually born with kinky-curly hair, by childhood their hair may become straight.25 Bony changes, such as thickening of the cortex seen in the long or cranial bones, are also variable and are not present in all affected individuals. Given the variable clinical presentations associated with this syndrome, it is not surprising that individuals with TDO are often improperly diagnosed. The differentiation of TDO and amelogenesis imperfecta (AI) with taurodontism has proven confusing with numerous cases being misreported as AI with taurodontism only to be reclassified as TDO after further study.24Seow (1993) concluded that enamel hypoplasia with taurodontism involving the mandibular first permanent molar, as well as other teeth, was indicative of TDO and was not seen in cases of AI with taurodontism.26 Whether TDO and AI with taurodontism are separate genetic entities or the result of variable expression of the same gene is not known.
Hypogonadism, erectile dysfunction, and infertility in men
Published in Philip E. Harris, Pierre-Marc G. Bouloux, Endocrinology in Clinical Practice, 2014
Pierre-Marc G. Bouloux, Shalender Bhasin
Studies have shown that in adults with Klinefelter’s syndrome, overall age-matched mortality is roughly doubled, mainly from nonneoplastic diseases of the cardiovascular, respiratory, and digestive systems, and from diabetes, with an increase in the incidence of breast cancer (20-fold higher), extragonadal germ cell tumors (posterior mediastinum), and autoimmune diseases. Taurodontism (an enlargement of the pulp in molar teeth), predisposing one to premature dental caries, is seen in almost 50% of Klinefelter’s syndrome patients. Early varicose veins are also a feature of Klinefelter’s syndrome, as is an increased risk of deep vein thrombosis.
Expression Levels of WNT Signaling Pathway Genes During Early Tooth Development
Published in Organogenesis, 2023
Yuhan Song, Fujie Song, Xuan Xiao, Zhifeng Song, Shangfeng Liu
Tooth development is a dynamic process that includes the bud, cap and bell stages, root development and tooth eruption.9 It is universally known that Wnt signaling pathway plays an important role in tooth development.10 The Wnt signaling molecules are spatiotemporally activated in tooth development, thereby implying its essential role in the process of odontogenesis. The mutations of Wnt signaling genes may result in tooth agenesis (TA). The genetic link between TA and the Wnt pathway was first evidenced by the identification of a mutation of the Axin2 gene in an oligodontia family.10 Mutation of Wnt10a may lead to odonto-onycho-dermal dysplasia, Hypohidrotic ectodermal dysplasia, Schopf-Schulz-Passarge syndrome and many non-syndromic tooth agenesis. Abnormal expression of Wnt10b is related to oligodontia, microdontia, short tooth roots, dental pulp stones, and taurodontism.11–13 Mutation of Lrp6 is also associated with oligodontia, mesiodens, fusion of teeth, odontomas, microdontia, long roots, molars with unseparated roots, and taurodontism. 14,15
Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations
Published in Ophthalmic Genetics, 2022
Robert A. Hyde, Evelina Kratunova, Jason C. Park, J. Jason McAnany
The intraoral examination showed age-appropriate permanent dentition with spacing between the teeth. All teeth presented with thin, yellow-brown discolored enamel consistent with hypoplastic-hypomineralized type AI (Figure 2c). Radiographically, the enamel was thin, the mandibular second molars had taurodontism and the unerupted third molars exhibited hyperplastic dental follicles. The patient had undergone restorative treatment, including stainless steel crowns on upper molars, dental restorations on lower molars and endodontic therapy (Figure 2d).