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The ontogeny of Robin sequence.

Robrecht J H Logjes1, Corstiaan C Breugem1, Gijs Van Haaften2

  • 1Department of Plastic and Reconstructive Surgery, University Medical Center Utrecht, Wilhelmina Children's Hospital Utrecht, Utrecht, The Netherlands.

American Journal of Medical Genetics. Part A
|April 27, 2018
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Summary
This summary is machine-generated.

Robin sequence (RS) involves micrognathia, glossoptosis, and airway obstruction due to oropharyngeal development issues. Understanding its embryology, pathogenesis, and diverse etiologies is crucial for diagnosis, treatment, and prognosis.

Keywords:
Pierre Robin sequenceRobin sequencecleft palateembryologygeneticsglossoptosismicrognathia

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Area of Science:

  • Developmental biology
  • Embryology
  • Genetics

Background:

  • Robin sequence (RS) is characterized by micrognathia, glossoptosis, and airway obstruction, stemming from constrained oropharyngeal development and reduced stomadeal space.
  • This developmental anomaly can also predispose fetuses to cleft palate.
  • RS exhibits heterogeneity, with syndromic, RS-plus, and isolated forms described.

Purpose of the Study:

  • To provide an updated understanding of the embryology and pathogenesis of Robin sequence.
  • To elucidate the developmental mechanisms of the mandible, tongue, and palate in RS.
  • To summarize current knowledge on the diverse etiologies of RS and their links to developmental and genetic factors.

Main Methods:

  • Review of current literature on craniofacial development and Robin sequence.
  • Analysis of embryologic, developmental, and genetic mechanisms underlying RS.
  • Synthesis of information on syndromic, RS-plus, and isolated forms of RS.

Main Results:

  • The manuscript details the intricate development of the mandible, tongue, and palate, highlighting factors contributing to RS.
  • It explores various etiologies, connecting them to specific embryologic, developmental, and genetic pathways.
  • An updated summary of RS phenotypes and their underlying mechanisms is presented.

Conclusions:

  • A comprehensive understanding of embryology and pathogenesis is essential for optimal diagnosis, treatment, and prognosis of Robin sequence.
  • The manuscript provides valuable insights into the multifactorial nature of RS, integrating developmental and genetic perspectives.
  • This review serves as a resource for clinicians and researchers seeking to understand and manage Robin sequence effectively.