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Page 1
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in 340 patients from our cohort and the literature. ...Associations found included a higher phenotypical score in patients with sequenc …
Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in …
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B. Brancati F, et al. Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. Orphanet J Rare Dis. 2006. PMID: 17163996 Free PMC article. Review.
KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features obser …
KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal ( …
Is there any relationship between hypodontia and hyperdontia with taurodontism, microdontia and macrodontia? A retrospective study.
Gokkaya B, Oflezer OG, Ozdil NY, Kargul B. Gokkaya B, et al. Niger J Clin Pract. 2020 Jun;23(6):805-810. doi: 10.4103/njcp.njcp_559_19. Niger J Clin Pract. 2020. PMID: 32525115
BACKGROUND: Hypodontia and hyperdontia may occur with other dental anomalies such as microdontia, taurodontism, talon cusp, macrodontia and germination. AIMS: The aim of this study to evaluate the relationship between hypodontia and hyperdontia with taurodontism, macrod …
BACKGROUND: Hypodontia and hyperdontia may occur with other dental anomalies such as microdontia, taurodontism, talon cusp, macrodontia …
Tooth abnormalities in congenital infiltrating lipomatosis of the face.
Sun L, Sun Z, Zhu J, Ma X. Sun L, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Feb;115(2):e52-62. doi: 10.1016/j.oooo.2012.07.433. Epub 2012 Sep 28. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013. PMID: 23021924 Review.
RESULTS: In total, 21 cases with tooth abnormalities in CIL-F were retrieved for analysis. Accelerated tooth formation and eruption (17 cases), macrodontia (9 cases), and root hypoplasia (8 cases) were observed in CIL-F. CONCLUSION: Tooth abnormalities including acc …
RESULTS: In total, 21 cases with tooth abnormalities in CIL-F were retrieved for analysis. Accelerated tooth formation and eruption (17 case …
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
Choi Y, Choi J, Do H, Hwang S, Seo GH, Choi IH, Keum C, Choi JH, Kang M, Kim GH, Yoo HW, Lee BH. Choi Y, et al. Mol Genet Genomic Med. 2023 Apr;11(4):e2127. doi: 10.1002/mgg3.2127. Epub 2022 Dec 23. Mol Genet Genomic Med. 2023. PMID: 36564961 Free PMC article. Review.
BACKGROUND: KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused either by a heterozygous variant in ANKRD11 or deletion of 16q24.3, including ANKRD11. ...Various clinical manif …
BACKGROUND: KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and …
Developmental enamel defects and dental anomalies of number and size in children with growth hormone deficiency.
Torlińska-Walkowiak N, Majewska KA, Sowińska A, Kędzia A, Opydo-Szymaczek J. Torlińska-Walkowiak N, et al. Sci Rep. 2023 Sep 7;13(1):14707. doi: 10.1038/s41598-023-41892-x. Sci Rep. 2023. PMID: 37679467 Free PMC article.
The dental examination in primary and permanent teeth was carried out by one trained and calibrated dentist, in accordance with the WHO guidelines. It was observed that 33% of GHD patients suffer from dental anomalies (hypodontia, microdontia or macrodontia), the di …
The dental examination in primary and permanent teeth was carried out by one trained and calibrated dentist, in accordance with the WHO guid …
A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
Chen J, Xia Z, Zhou Y, Ma X, Wang X, Guo Q. Chen J, et al. BMC Med Genomics. 2021 Mar 2;14(1):68. doi: 10.1186/s12920-021-00920-3. BMC Med Genomics. 2021. PMID: 33653342 Free PMC article.
Whole-exome sequencing and Sanger sequencing were used to detect and confirm the variant associated with KBG in this patient, respectively. The pathogenicity of the variant was further predicted by several in silico prediction tools. The patient was diagnosed as KBG …
Whole-exome sequencing and Sanger sequencing were used to detect and confirm the variant associated with KBG in this patient, respectively. …
RISK FACTORS AND PREDICTORS OF CROSSBITE AT CHILDREN.
Zegan G, Dascalu CG, Mavru RB, Golovcencu L. Zegan G, et al. Rev Med Chir Soc Med Nat Iasi. 2015 Apr-Jun;119(2):564-71. Rev Med Chir Soc Med Nat Iasi. 2015. PMID: 26204668
AIM: was to determine the etiological risk factors and predictors of crossbite' treatment at children. MATERIAL AND METHODS: 270 cases with crossbites and 255 controls with other malocclusions were uniformly evaluated. ...Binary logistic regression was used to find risk fa …
AIM: was to determine the etiological risk factors and predictors of crossbite' treatment at children. MATERIAL AND METHODS: 270 case …
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Ockeloen CW, et al. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424714 Free PMC article.
Detailed orofacial phenotyping, including orthodontic evaluation, intra-oral photographs and orthopantomograms, was performed in 10 patients and revealed besides the hallmark feature of macrodontia of central upper incisors, several additional dental anomalies as oligodont …
Detailed orofacial phenotyping, including orthodontic evaluation, intra-oral photographs and orthopantomograms, was performed in 10 patients …
Cockayne's syndrome: a case report. Literature review.
Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC. Arenas-Sordo Mde L, et al. Med Oral Patol Oral Cir Bucal. 2006 May 1;11(3):E236-8. Med Oral Patol Oral Cir Bucal. 2006. PMID: 16648759 Free article. Review.
In the oral cavity we found deficient hygiene, gingivitis, cervical caries, enamel hipoplasia, abnormal position of the upper and inferior lateral incisors, macrodontia of the upper central teeth, the left one presented a caries. In the x-ray we observed congenital …
In the oral cavity we found deficient hygiene, gingivitis, cervical caries, enamel hipoplasia, abnormal position of the upper and inferior l …
28 results