Taurodontism is a rare dental morphological anomaly characterised by an unusual increase in the vertical height of the pulpal chamber along with an apical displacement of the pulpal floor. The tooth lack constriction at the cementoenamel junction is mimicking a bull tooth. Taurodontism is usually observed as an isolated tooth aberration. However, it can also be associated with specific syndromes such as Down's syndrome, amelogenesis imperfecta, Klinefelter syndrome, Tricho-Dento-Osseous syndrome, Mohr syndrome, Prader-Labhart-Willi syndrome, Ellis van Creveld syndrome and Lowe syndrome. Periodontitis is characterised by microbially associated, host-mediated inflammation that results in loss of periodontal attachment. This case report describes a rare case of non-syndromic generalised taurodontism in a male patient with Stage III Grade C periodontitis. The patient was promptly given periodontal care by root planing and Kirkland flap surgery.
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http://dx.doi.org/10.1136/bcr-2023-254583 | DOI Listing |
Mol Genet Genomics
December 2024
ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
View Article and Find Full Text PDFMedicina (B Aires)
December 2024
Escuela de Medicina de la Pontificia Universidad Católica Argentina, Buenos Aires, Argentina.
Obesity is a disorder of multifactorial origin in which both genetic and environmental factors intervene. Currently, numerous gene variants related to the control of intake and the mechanism of action of leptin in the central nervous system through the melanocortin pathway have been described. The accessibility to molecular studies through next-generation sequencing panels that include dozens of genes related to this condition shows that the incidence is much higher than previously reported.
View Article and Find Full Text PDFInt J Audiol
December 2024
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, Granada, Spain.
Objective: To review recent advances in genetic diagnosis of sensorineural hearing loss (SNHL) using gene panels, exome, and genome sequencing.
Design: A scoping review. Articles published from January 2022 to May 2024 on gene panels, exome, or genome sequencing for early SNHL diagnosis were reviewed.
Heart
December 2024
John P and Kathrine G McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA
Background: Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syndrome (22q11.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Foggia, Italy.
ASH1L gene encodes a histone lysine methyltransferase, highly expressed in both embryonic and adult human brain. De novo loss-of-function variants in ASH1L are described in an ultrarare monogenic neurodevelopmental disorder, previously called mental retardation type 52 (MRD52). At the same time, a few cases are reported in the literature and DECIPHER with 1q22 microdeletions spanning ASH1L.
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