| Literature DB >> 29696787 |
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.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