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107 results

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Quoted phrase not found in phrase index: "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome"
Page 1
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
Ranza E, Le Gouez M, Guimier A, Dunlop NK, Beaudoin S, Malan V, Michot C, Baujat G, Rio M, Cormier-Daire V, Abadie V, Sarnacki S, Delacourt C, Lyonnet S, Attié-Bitach T, Pingault V, Rousseau V, Amiel J. Ranza E, et al. Am J Med Genet A. 2023 Jan;191(1):77-83. doi: 10.1002/ajmg.a.62989. Epub 2022 Oct 21. Am J Med Genet A. 2023. PMID: 36271508
Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA ar …
Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achi …
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ. Plomp RG, et al. Plast Reconstr Surg. 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. Plast Reconstr Surg. 2016. PMID: 26710023 Review.
BACKGROUND: No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syndrome. The authors' aim is to provide an evidence-based review of multidisciplinary treatment of Treacher Collins syndrome based …
BACKGROUND: No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syn …
Dental, orthodontic, and oral/maxillofacial evaluation and treatment in Apert syndrome.
Ferraro NF. Ferraro NF. Clin Plast Surg. 1991 Apr;18(2):291-307. Clin Plast Surg. 1991. PMID: 2065490 Review.
Although the cause of the midfacial anomalies in Apert syndrome is still elusive, a great experience has accrued in the management of these physically and psychologically handicapping deformities. ...
Although the cause of the midfacial anomalies in Apert syndrome is still elusive, a great experience has accrued in the management of …
The Craniofacial and Upper Limb Management of Nager Syndrome.
Chummun S, McLean NR, Anderson PJ, Nieuwenhoven Cv, Mathijssen I, David DJ. Chummun S, et al. J Craniofac Surg. 2016 Jun;27(4):932-7. doi: 10.1097/SCS.0000000000002626. J Craniofac Surg. 2016. PMID: 27171953
INTRODUCTION: Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. It is commonly mistaken for Treacher Collins syndrome, with which it shares the same craniofacial phenotype. However, patients with Treacher Collins do not e …
INTRODUCTION: Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. It is commonly mistaken …
Nager syndrome and Pierre Robin sequence.
Rosa RF, Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR. Rosa RF, et al. Pediatr Int. 2015 Apr;57(2):e69-72. doi: 10.1111/ped.12562. Epub 2015 Mar 25. Pediatr Int. 2015. PMID: 25808856 Review.
Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. ...In the literature review, we identified the clinical description of 44 patients with Nager syndrome. Among them, 93.1% had micrognathia, 38.6% cleft pa …
Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. ...In the literature …
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N. Kantaputra PN, et al. Clin Otolaryngol. 2020 Sep;45(5):695-702. doi: 10.1111/coa.13560. Epub 2020 May 25. Clin Otolaryngol. 2020. PMID: 32351010 Free article.
Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses. ...RESULTS: All of the patients affected with Treacher Collins syndrome carried a novel TCOF1 mutat …
Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of …
Acrofacial dysostosis type Rodríguez.
Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E. Dimitrov B, et al. Am J Med Genet A. 2005 May 15;135(1):81-5. doi: 10.1002/ajmg.a.30673. Am J Med Genet A. 2005. PMID: 15793832 Review.
The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of limb anomalies. Several abnormalities affecting different internal organs and the central nervous system (CNS) have …
The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dyso …
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. ...CONCLUSIONS: Clinical outcomes to airway function after MDO are significantly inferior in patients with …
INTRODUCTION: Treacher Collins syndrome (TC) and Pierre Robin sequence (RS) are associated with hypoplastic mandible, glossoptosis, a …
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 mutation loca …
OBJECTIVE: To analyze the genetic cause of a hearing loss child with the Treacher Collins syndrome (TCS) phenotypes of malar hypoplas …
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 cases were collec …
OBJECTIVE: The aim of this study was to confirm the pathogenic variants, explore the genotype-phenotype correlation and characteristics of C …
107 results