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346 results
  • Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient. [Case Reports]
    Genes (Basel). 2020 May 28; 11(6)Tripon F, Bogliș A, … Bănescu C
  • Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the TCF4 gene associate mild intellectual disability (ID), between exons 5 to 8, moderate to severe ID and sometimes have some of the characteristics of PTHS, and variants s…
  • Exploring the presence of dental anomalies as a consequence of treatment of malignancy: A case report. [Journal Article]
    J Oral Biol Craniofac Res. 2020 Apr-Jun; 10(2):135-137.Juneja A, Sultan A, Iqbal S
  • Simultaneous presentation of tuberculosis (TB) and lymphoma in a young child is indeed a very rare entity. Malignancy such as Hodgkin's disease (HD) most commonly causes suppression of the cell-mediated immunity, which makes the individual, especially children, more prone to tuberculous infection. One of the non-life threatening complications in these young cancer survivors is the associated dent…
  • Gingival Bleeding in a Child with Fanconi Anemia: A Case Report and Literature Review. [Case Reports]
    Case Rep Dent. 2020; 2020:3161053.Touil D, Bouhouch R, … Douki N
  • Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by multiple congenital abnormalities, bone marrow failure, and higher susceptibility to malignancies, especially to head and neck carcinomas. Only few reports about the oral manifestations of FA are available. The main reported oral conditions associated with FA are microdontia and advanced periodontitis. The aim of this pap…
  • Long-term Adverse Effects of Acute Myeloid Leukemia Treatment on Odontogenesis in a Child. [Case Reports]
    Int J Clin Pediatr Dent. 2019 May-Jun; 12(3):243-246.Hernandez M, Pochon C, … Droz D
  • CONCLUSIONS: The young age at diagnosis (<5 years of age) and intensive chemotherapy (especially myeloablative conditioning with high doses of cyclophosphamide and Busulfan) could explain the severity of the dental abnormalities. This case illustrates the importance of systematically scheduling a dental follow-up in parallel with the onco-hematologic follow-up allowing the clinicians to prevent, detect, and propose early intervention for dental late effects.
  • An odontometric study of tooth dimension in diastematic dentition. [Journal Article]
    Folia Morphol (Warsz). 2019 Oct 17 [Online ahead of print]Sękowska A, Chałas R
  • CONCLUSIONS: Patients with diastema were characterized by incorrect tooth dimensions. The central incisors and upper canines were shorter in this group. Aesthetic closing of the diastema requires not only widening the crowns of the front teeth but also their elongation.
  • Oral Health-Related Quality of Life in Dutch Children Diagnosed with Oligodontia. A Cross-Sectional Study. [Journal Article]
    Int J Environ Res Public Health. 2019 07 04; 16(13)Filius MAP, Cune MS, … Visser A
  • There is need to get insight into condition-specific oral health-related quality of life in Dutch children with oligodontia. Between October 2014 and March 2017, 11-17-year-old oligodontia patients were approached to join a study assessing the impact of oligodontia on condition-specific oral health-related quality of life (OHrQoL). The patients received a condition-specific OHrQoL questionnaire p…
  • Non-syndromic occurrence of true generalized microdontia with hypodontia: A case report. [Case Reports]
    Medicine (Baltimore). 2019 Jun; 98(26):e16283.Chen Y, Zhou F, … Wang Y
  • CONCLUSIONS: The non-syndromic presence of true generalized microdontia is extremely rare. A personalized treatment plan with multi-disciplinary considerations should be given for these patients. The pathogenesis remains unclear but may be related to genetic as well as environmental factors. More studies are urgently needed to explore the pathogenesis and treatment options for the future.
  • The prevalence of developmental anomalies among school children in Southern district of Andhra Pradesh, India. [Journal Article]
    J Oral Maxillofac Pathol. 2019 Jan-Apr; 23(1):160.Bandaru BK, Thankappan P, … Rajendra Santosh AB
  • CONCLUSIONS: Tongue-tie was the most frequent oral tissue developmental anomaly and fluorosis was the most common developmental anomaly affecting dental tissue. The prevalence rate of the study was compared with studies published from other geographical regions in India. The variations in the reported prevalence of developmental anomalies are probably related to genetic and environmental conditions.
  • GeneReviews®: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia [BOOK]
    . University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AOrdonez J, Tekin MBOOK
  • Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that is typically bilateral (although unilateral microtia and normal external ears are observed on occasion); and microdontia (s…
  • Trps1 transcription factor regulates mineralization of dental tissues and proliferation of tooth organ cells. [Journal Article]
    Mol Genet Metab. 2019 04; 126(4):504-512.Goss M, Socorro M, … Napierala D
  • Mutations of the TRPS1 gene cause trichorhinophalangeal syndrome (TRPS), a skeletal dysplasia with dental abnormalities. TRPS dental phenotypes suggest that TRPS1 regulates multiple aspects of odontogenesis, including the tooth number and size. Previous studies delineating Trps1 expression throughout embryonic tooth development in mice detected strong Trps1 expression in dental mesenchyme, preodo…
  • Dental developmental alterations in patients with dilacerated teeth. [Journal Article]
    Med Oral Patol Oral Cir Bucal. 2019 Jan 01; 24(1):e8-e11.Ledesma-Montes C, Jiménez-Farfán MD, Hernández-Guerrero JC
  • CONCLUSIONS: 45.5% is a very high proportion of DDAs in patients with dilacerated roots. Findings from this study strongly suggest that patients with dilacerated teeth should be carefully screened since many of them could present other DDAs. Simultaneous occurrence of dilaceration and DDAs suggests synchronic developmental defects during dental growth.
  • Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant. [Journal Article]
    Am J Med Genet A. 2019 01; 179(1):43-49.Michael Yates T, Ng OH, … Johnson DS
  • Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic dysplasia (CFTD; MIM #213980). The phenotype of this condition includes severe intellectual disability, as well as distinctive craniofacial features, including brachycephaly, synophrys, arched eyebrows, "cupid's bow" upper lip, and microdontia. In addition, nonspecific skeleta…
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