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102 results

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Page 1
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN. Smallwood K, et al. Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18. Am J Hum Genet. 2023. PMID: 37075751 Free PMC article.
Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. The predominant phenotypes observed in the cohort of 3 individuals were craniofacial anomal …
Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause o …
De novo TCOF1 mutation in Treacher Collins syndrome.
Liu J, Dong J, Li P, Duan W. Liu J, et al. Int J Pediatr Otorhinolaryngol. 2021 Aug;147:110765. doi: 10.1016/j.ijporl.2021.110765. Epub 2021 May 11. Int J Pediatr Otorhinolaryngol. 2021. PMID: 34058530
OBJECTIVE: To analyze the genetic cause of a hearing loss child with the Treacher Collins syndrome (TCS) phenotypes of malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures and cup ears. ...CONCLUSION: This article reports a novel nonsense …
OBJECTIVE: To analyze the genetic cause of a hearing loss child with the Treacher Collins syndrome (TCS) phenotypes of …
Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study.
Kato RM, Moura PP, Zechi-Ceide RM, Tonello C, Peixoto AP, Garib D. Kato RM, et al. Cleft Palate Craniofac J. 2021 Jan;58(1):78-83. doi: 10.1177/1055665620937499. Epub 2020 Jul 2. Cleft Palate Craniofac J. 2021. PMID: 32613853
OBJECTIVE: The aim of this study was to compare the dentoskeletal pattern of Treacher Collins syndrome (TCS) and nonsyndromic Pierre Robin sequence (PRS). ...CONCLUSIONS: Treacher Collins syndrome presented a decreased mandible and a more …
OBJECTIVE: The aim of this study was to compare the dentoskeletal pattern of Treacher Collins syndrome (TCS) and nonsyn …
Treacher Collins Syndrome and Tracheostomy: Decannulation Using Mandibular Distraction Osteogenesis.
Ali-Khan S, Runyan C, Nardini G, Shetye P, Staffenberg D, McCarthy JG, Flores RL. Ali-Khan S, et al. Ann Plast Surg. 2018 Sep;81(3):305-310. doi: 10.1097/SAP.0000000000001514. Ann Plast Surg. 2018. PMID: 29905603
INTRODUCTION: Treacher Collins syndrome (TC) and Pierre Robin sequence (RS) are associated with hypoplastic mandible, glossoptosis, and consequent airway obstruction. ...RESULTS: Surgical success, defined as prevention of imminent tracheostomy or successful d …
INTRODUCTION: Treacher Collins syndrome (TC) and Pierre Robin sequence (RS) are associated with hypoplastic mandible, g …
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.
Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF. Ulhaq ZS, et al. Clin Genet. 2023 Feb;103(2):146-155. doi: 10.1111/cge.14243. Epub 2022 Oct 17. Clin Genet. 2023. PMID: 36203321 Review.
Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. ...Our result suggested that the higher severity level was likely to be observed in Asia …
Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in …
Treacher Collins syndrome: current evaluation, treatment, and future directions.
Posnick JC, Ruiz RL. Posnick JC, et al. Cleft Palate Craniofac J. 2000 Sep;37(5):434. doi: 10.1597/1545-1569(2000)037<0434:TCSCET>2.0.CO;2. Cleft Palate Craniofac J. 2000. PMID: 11034023 Review.
OBJECTIVE: Treacher Collins syndrome (TCS) is an inherited disorder in which there are general bilateral symmetric anomalies of the structures within the first and second branchial arches. ...CONCLUSION: This article reviews the range of clinical features and …
OBJECTIVE: Treacher Collins syndrome (TCS) is an inherited disorder in which there are general bilateral symmetric anom …
Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review.
Wang Y, Wang Y, Yao M, Chen L, Wu S, Liu Y. Wang Y, et al. Int J Gynaecol Obstet. 2023 Dec;163(3):778-781. doi: 10.1002/ijgo.14881. Epub 2023 May 25. Int J Gynaecol Obstet. 2023. PMID: 37231986 Review.
Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft palate, and deformed external ears are observed during prenatal ultrasonography, excepting Pierre Robin sequence. ...
Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft pal …
Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.
Lu M, Yang B, Chen Z, Jiang H, Pan B. Lu M, et al. Cleft Palate Craniofac J. 2022 Aug;59(8):1038-1047. doi: 10.1177/10556656211037509. Epub 2021 Aug 16. Cleft Palate Craniofac J. 2022. PMID: 34397304
OBJECTIVE: The aim of this study was to confirm the pathogenic variants, explore the genotype-phenotype correlation and characteristics of Chinese patients with Treacher Collins syndrome (TCS). DESIGN: Clinical details of 3 TCS family cases and 2 sporadic cas …
OBJECTIVE: The aim of this study was to confirm the pathogenic variants, explore the genotype-phenotype correlation and characteristics of C …
Craniofacial and Upper Airway Development in Patients With Treacher Collins Syndrome.
Lin Y, Ma X, Huang Y, Mu L, Yang L, Zhao M, Xie F, Zhang C, Xu J, Lu J, Teng L. Lin Y, et al. J Craniofac Surg. 2021 Oct 1;32(7):2305-2309. doi: 10.1097/SCS.0000000000007661. J Craniofac Surg. 2021. PMID: 34705378
This study evaluated age-associated morphology changes in the cranial base, facial development, and upper airway of patients with Treacher Collins syndrome (TCS). A total of 33 preoperative computed tomographic images (TCS, n = 14; control, n = 19) were inclu …
This study evaluated age-associated morphology changes in the cranial base, facial development, and upper airway of patients with Treache …
Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome.
Esenlik E, Plana NM, Grayson BH, Flores RL. Esenlik E, et al. Plast Reconstr Surg. 2017 Dec;140(6):1240-1249. doi: 10.1097/PRS.0000000000003853. Plast Reconstr Surg. 2017. PMID: 28820843
BACKGROUND: The aim of this study was to identify cephalometric measurements associated with clinical severity in patients with Treacher Collins syndrome. METHODS: A retrospective single-institution review of patients with Treacher Collins sy …
BACKGROUND: The aim of this study was to identify cephalometric measurements associated with clinical severity in patients with Treacher …
102 results