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Rothmund−Thomson Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Vikram K. Mahajan, Dhaarna Wadhwa
Other isolated and less common abnormalities are calcinosis and porokeratosis [17], suppurative otitis media, lower respiratory tract infection and bronchiectasis [19,20], aminoaciduria, myelodysplasia, leukemia, progressive leucopenia, or aplastic anemia [21–23], gastrointestinal anomalies (pyloric stenosis, anal atresia, annular pancreas, rectovaginal fistula, chronic emesis, diarrhea) [24], defective dentition (rudimentary or hypoplastic teeth, microdontia, short roots, unusual crown formations, early caries) in 27%–59% cases [25–27], sensorineural deafness [28], mental retardation and delayed speech [1], growth hormone deficiency [29,30], anhidrosis and immune dysfunction [31], hypoparathyroidism, infertility, and hypogonadism (in 30% cases) [32].
Immunology (primary Immunodeficiency Syndromes
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephan Strobel, Alison M. Jones
The dominant clinical feature of CHH is shortlimbed skeletal dysplasia, which is evident at birth and can also be detected in utero through shortening and bowing of the femur. Additional features include fine, sparse hair, nail dysplasia, skin hypopigmentation, microdontia and gastrointestinal malformation and/or diseases. Individuals with severe immunodeficiency present in early infancy and have increased susceptibility to (opportunistic) infections as in other infants with SCID. Recently infants with a SCID phenotype cause by RMRP mutations, but who have little evidence of skeletal dysplasia have been recognised.
Reduced mesiodistal tooth dimension in individuals with osteogenesis imperfecta: a cross-sectional study
Published in Acta Odontologica Scandinavica, 2021
L. Staun Larsen, K. J. Thuesen, H. Gjørup, J. D. Hald, M. Væth, M. Dalstra, D. Haubek
The present results on mesiodistal tooth dimension in healthy 20-yr-old controls corroborate Townsend’s results from 1983 [22]. The age of twenty was chosen to match Townsend’s control group comprising 265 children and young adults [22]. Considering gender dimorphism, both studies show that women’s teeth in general are smaller than men’s teeth. This finding is in line with men exhibiting a higher frequency of hyperdontia and macrodontia than women, and women having a higher prevalence of microdontia and hypodontia than men [20]. The present gender difference (Table 3) is in the same order of magnitude as Townsend found [22], with women’s teeth being in average 2% smaller in the mesiodistal dimension compared to men’s teeth. Townsend made measurements on plaster models using a dial calliper [22] as compared to the present digital measurements on 3 D-models. A digital approach was chosen since a recent study has shown that measurements on digital models present with less variation than measurements on plaster models [23].
Oral microbiome in down syndrome and its implications on oral health
Published in Journal of Oral Microbiology, 2021
Jesse R. Willis, Susana Iraola-Guzmán, Ester Saus, Ewa Ksiezopolska, Luca Cozzuto, Luis A. Bejarano, Nuria Andreu-Somavilla, Miriam Alloza-Trabado, Anna Puig-Sola, Andrea Blanco, Elisabetta Broglio, Carlo Carolis, Jochen Hecht, Julia Ponomarenko, Toni Gabaldón
However, we find a less straightforward connection to dental caries, wherein differential abundances of particular taxa suggest a non-caries environment, while the lower alpha diversity and low salivary pH suggest the potential occurrence of caries in DS samples. The literature has generally shown either lower incidence of caries in DS or no significant difference compared to non-DS [27,28]. This has been explained by the relatively late eruption of teeth in DS, microdontia, more missing teeth and greater dental spacing [29,30]. Many of the studies that, in the context of the differential abundances in our data, would suggest a low incidence of dental caries in our DS samples, were conducted with samples from young children [52–58], and so are likely to represent early stages of cariogenesis. It may be that DS has a low incidence of dental caries because, despite typically worse oral hygiene, the unique dentition does not allow for optimal growth of many of the early plaque colonizers that initiate caries, while promoting the growth of organisms associated with the lack of caries. Nonetheless, the combination of poor oral health with the increase in acidogenic organisms in our DS samples and a low alpha diversity still may suggest a potentially cariogenic environment in DS.