Literature DB >> 29696787

The ontogeny of Robin sequence.

Robrecht J H Logjes1, Corstiaan C Breugem1, Gijs Van Haaften2, Emma C Paes1, Geoffrey H Sperber3, Marie-José H van den Boogaard2, Peter G Farlie4.   

Abstract

The triad of micrognathia, glossoptosis, and concomitant airway obstruction defined as "Robin sequence" (RS) is caused by oropharyngeal developmental events constrained by a reduced stomadeal space. This sequence of abnormal embryonic development also results in an anatomical configuration that might predispose the fetus to a cleft palate. RS is heterogeneous and many different etiologies have been described including syndromic, RS-plus, and isolated forms. For an optimal diagnosis, subsequent treatment and prognosis, a thorough understanding of the embryology and pathogenesis is necessary. This manuscript provides an update about our current understanding of the development of the mandible, tongue, and palate and possible mechanisms involved in the development of RS. Additionally, we provide the reader with an up-to-date summary of the different etiologies of this phenotype and link this to the embryologic, developmental, and genetic mechanisms.
© 2018 Wiley Periodicals, Inc.

Entities:  

Keywords:  Pierre Robin sequence; Robin sequence; cleft palate; embryology; genetics; glossoptosis; micrognathia

Mesh:

Year:  2018        PMID: 29696787     DOI: 10.1002/ajmg.a.38718

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  6 in total

1.  Disrupted tenogenesis in masseter as a potential cause of micrognathia.

Authors:  Chao Liu; Nan Zhou; Nan Li; Tian Xu; Xiaoyan Chen; Hailing Zhou; Ailun Xie; Han Liu; Lei Zhu; Songlin Wang; Jing Xiao
Journal:  Int J Oral Sci       Date:  2022-10-18       Impact factor: 24.897

2.  Objective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review.

Authors:  Robrecht J H Logjes; Joanna E MacLean; Noor W de Cort; Christian F Poets; Véronique Abadie; Koen F M Joosten; Cory M Resnick; Ivy K Trindade-Suedam; Carlton J Zdanski; Christopher R Forrest; Frea H Kruisinga; Roberto L Flores; Kelly N Evans; Corstiaan C Breugem
Journal:  J Clin Sleep Med       Date:  2021-08-01       Impact factor: 4.324

3.  Long-term Speech Outcomes of Cleft Palate Repair in Robin Sequence versus Isolated Cleft Palate.

Authors:  Robrecht J H Logjes; Susanna Upton; Bryce A Mendelsohn; Ryan K Badiee; Corstiaan C Breugem; William Y Hoffman; Jason H Pomerantz
Journal:  Plast Reconstr Surg Glob Open       Date:  2021-01-21

Review 4.  Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex.

Authors:  Susan M Motch Perrine; Meng Wu; Greg Holmes; Bryan C Bjork; Ethylin Wang Jabs; Joan T Richtsmeier
Journal:  J Dev Biol       Date:  2020-12-05

5.  Unusual phenotypes in patients with a pathogenic germline variant in DICER1.

Authors:  Kateryna Venger; Miriam Elbracht; Julia Carlens; Peter Deutz; Felix Zeppernick; Lisa Lassay; Christian Kratz; Martin Zenker; Jung Kim; Douglas R Stewart; Ilse Wieland; Kris Ann P Schultz; Nicolaus Schwerk; Ingo Kurth; Udo Kontny
Journal:  Fam Cancer       Date:  2021-07-31       Impact factor: 2.446

Review 6.  Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion.

Authors:  Anudeep Yekula; Connor Grant; Mihir Gupta; David R Santiago-Dieppa; Pate J Duddleston; David Gonda; Michael Levy
Journal:  Childs Nerv Syst       Date:  2020-05-12       Impact factor: 1.475

  6 in total

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