Literature DB >> 30851751

Treacher Collins Syndrome.

Albaraa Aljerian1, Mirko S Gilardino2.   

Abstract

Treacher Collins syndrome is a rare genetic disorder of craniofacial development with a highly variable phenotype. The disorder displays an intricate underlying dysmorphology. Affected patients may suffer life-threatening airway complications and functional difficulties involving sight, hearing, speech, and feeding. Deformation of facial structures produces a characteristic appearance that includes malar hypoplasia, periorbital soft tissue anomalies, maxillomandibular hypoplasia, and ear anomalies. Management requires a specialized craniofacial team, as comprehensive care starts at birth and may require life-long follow-up. Standard craniofacial procedures for bony and soft tissue reconstruction are used. This article outlines current treatment strategies and future concepts for surgical management.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Congenital airway; Facial deformity; Franceschetti-Klein syndrome; Malar hypoplasia; Mandibular distraction; Mandibular hypoplasia; Microtia; Treacher Collins syndrome

Mesh:

Year:  2019        PMID: 30851751     DOI: 10.1016/j.cps.2018.11.005

Source DB:  PubMed          Journal:  Clin Plast Surg        ISSN: 0094-1298            Impact factor:   2.017


  9 in total

1.  [Genetic characteristics of microtia-associated syndromes in neonates].

Authors:  Jing Ma; Wen-Hao Zhou
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2022-06-15

2.  Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.

Authors:  Yan-Dong Yang; Li Zhen; Dong-Zhi Li
Journal:  Mol Syndromol       Date:  2022-02-08

3.  Skeletal Stem Cells-A Paradigm Shift in the Field of Craniofacial Bone Tissue Engineering.

Authors:  Ruth Tevlin; Michael T Longaker; Derrick C Wan
Journal:  Front Dent Med       Date:  2020-11-23

4.  The important role of MDM2, RPL5, and TP53 in mycophenolic acid-induced cleft lip and palate.

Authors:  Yangyang Lin; Tao Song; Elsa M Ronde; Gang Ma; Huiqin Cui; Meng Xu
Journal:  Medicine (Baltimore)       Date:  2021-05-28       Impact factor: 1.889

5.  TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.

Authors:  Xinmiao Fan; Yibei Wang; Yue Fan; Huiqian Du; Nana Luo; Shuyang Zhang; Xiaowei Chen
Journal:  Orphanet J Rare Dis       Date:  2019-07-15       Impact factor: 4.123

6.  Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

Authors:  Chuan Zhang; Lisha An; Huiqin Xue; Shengju Hao; Yousheng Yan; Qinghua Zhang; Xiaohua Jin; Qian Li; Bingbo Zhou; Xuan Feng; Panpan Ma; Xing Wang; Xue Chen; Cuixia Chen; Zongfu Cao; Xu Ma
Journal:  J Clin Lab Anal       Date:  2020-09-09       Impact factor: 2.352

Review 7.  Neonatal Airway Abnormalities.

Authors:  Adithya Srikanthan; Samantha Scott; Vilok Desai; Lara Reichert
Journal:  Children (Basel)       Date:  2022-06-24

Review 8.  Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis.

Authors:  Erica M Siismets; Nan E Hatch
Journal:  J Dev Biol       Date:  2020-09-09

9.  Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.

Authors:  Jue Zhao; Liwei Yang
Journal:  J Clin Lab Anal       Date:  2020-06-14       Impact factor: 2.352

  9 in total

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