Literature DB >> 23633935

Treacher collins syndrome.

Christopher C Chang1, Derek M Steinbacher.   

Abstract

Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome.

Entities:  

Keywords:  Franceschetti-Klein syndrome; Treacher Collins syndrome; facial clefting; malar hypoplasia; mandibular distraction; mandibulofacial dysostosis; microsomia; microtia

Year:  2012        PMID: 23633935      PMCID: PMC3424693          DOI: 10.1055/s-0032-1320066

Source DB:  PubMed          Journal:  Semin Plast Surg        ISSN: 1535-2188            Impact factor:   2.314


  43 in total

Review 1.  Treacher Collins syndrome: current evaluation, treatment, and future directions.

Authors:  J C Posnick; R L Ruiz
Journal:  Cleft Palate Craniofac J       Date:  2000-09

Review 2.  THE TREACHER-COLLINS SYNDROME.

Authors:  A O FERNANDEZ; M L RONIS
Journal:  Arch Otolaryngol       Date:  1964-11

3.  Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls.

Authors:  Pasquale Marsella; Alessandro Scorpecci; Concettina Pacifico; Luigi Tieri
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2011-08-11       Impact factor: 1.675

4.  The mandibulofacial dysostosis; a new hereditary syndrome.

Authors:  A FRANCESCHETTI; D KLEIN
Journal:  Acta Ophthalmol (Copenh)       Date:  1949

5.  Ear reconstruction in cases of typical microtia. Personal experience based on 352 microtic ear corrections.

Authors:  F Firmin
Journal:  Scand J Plast Reconstr Surg Hand Surg       Date:  1998-03

6.  Surgical treatment of Treacher Collins syndrome.

Authors:  Kazimierz Kobus; Piotr Wójcicki
Journal:  Ann Plast Surg       Date:  2006-05       Impact factor: 1.539

Review 7.  Treacher Collins syndrome.

Authors:  M J Dixon
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

8.  The contribution of microsurgical reconstruction to craniofacial surgery.

Authors:  N F Jones
Journal:  World J Surg       Date:  1989 Jul-Aug       Impact factor: 3.352

9.  Long-term stability and growth following unilateral mandibular distraction in growing children with craniofacial microsomia.

Authors:  Pradip R Shetye; Barry H Grayson; Richard J Mackool; Joseph G McCarthy
Journal:  Plast Reconstr Surg       Date:  2006-09-15       Impact factor: 4.730

10.  Facial augmentation with structural fat grafting.

Authors:  Sydney R Coleman
Journal:  Clin Plast Surg       Date:  2006-10       Impact factor: 2.017

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  8 in total

1.  Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study.

Authors:  Mohammed Junaid; Linda Slack-Smith; Kingsley Wong; Jenny Bourke; Gareth Baynam; Hanny Calache; Helen Leonard
Journal:  Pediatr Res       Date:  2022-03-29       Impact factor: 3.953

2.  Xiphoid process-derived chondrocytes: a novel cell source for elastic cartilage regeneration.

Authors:  Seungwoo Nam; Wheemoon Cho; Hyunji Cho; Jungsun Lee; EunAh Lee; Youngsook Son
Journal:  Stem Cells Transl Med       Date:  2014-09-09       Impact factor: 6.940

3.  Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.

Authors:  Zhiqiang Yan; Yu Lu; Yanfei Wang; Xiuju Zhang; Hong Duan; Jing Cheng; Huijun Yuan; Dongyi Han
Journal:  Exp Ther Med       Date:  2018-07-16       Impact factor: 2.447

4.  Easy airway management using the i-gel™ supraglottic airway in a patient with Treacher Collins syndrome.

Authors:  Jungsub Soh; Hye Won Shin; Sung Uk Choi; Choon Hak Lim; Hye Won Lee
Journal:  Korean J Anesthesiol       Date:  2014-12

5.  Surgical treatment of scoliosis in Treacher Collins syndrome: a case report.

Authors:  Christos Karampalis; Nikolaos Bounakis; Athanasios I Tsirikos
Journal:  J Med Case Rep       Date:  2014-12-19

Review 6.  Impaired ribosome biogenesis: mechanisms and relevance to cancer and aging.

Authors:  Zsofia Turi; Matthew Lacey; Martin Mistrik; Pavel Moudry
Journal:  Aging (Albany NY)       Date:  2019-04-26       Impact factor: 5.682

7.  Surgical management of the Tessier 7 cleft: A review and presentation of 5 cases.

Authors:  Hoda Khorasani; Slaven Boljanovic; Mary Amma Kjærulff Knudsen; Linda Plovmand Jakobsen
Journal:  JPRAS Open       Date:  2019-07-23

8.  Berry-Treacher Collins Syndrome With Congenital Bell's Palsy and Unilateral Anotia: Tongue-Tie Release Under General Anesthesia.

Authors:  Umesh Kumar Singh; Vamsi Krishna Uppalapati; Himanshu Kumar; Roushan Patel; Abhijit Kumar
Journal:  Cureus       Date:  2021-02-09
  8 in total

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