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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Robin sequence without cleft palate: Genetic diagnoses and management implications.

K Nicole Weaver1,2, Bonnie R Sullivan1,2, Stephanie A Balow1

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|September 27, 2021
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Summary

Robin sequence (RS) without cleft palate (CP) is strongly linked to other medical issues, unlike RS with CP. This suggests different causes and highlights potential underdiagnosis of RS without CP.

Keywords:
Robin sequencecleft palategeneticsmicrognathiasyndrome

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Area of Science:

  • Pediatric medicine
  • Genetics
  • Neonatology

Background:

  • Robin sequence (RS) involves micrognathia, glossoptosis, and airway obstruction, causing neonatal respiratory and feeding issues.
  • Approximately 50% of RS cases are syndromic, associated with other comorbidities.
  • The relationship between RS and cleft palate (CP) is variable, with limited research on their clinical differences.

Purpose of the Study:

  • To investigate clinical differences in children with RS based on the presence or absence of CP.
  • To compare genetic diagnoses, comorbidities, airway obstruction severity, and feeding outcomes between RS with and without CP.

Main Methods:

  • Retrospective review of 175 children diagnosed with RS.
  • Comparison of clinical data stratified by the presence or absence of CP.
  • Analysis included genetic diagnoses, comorbidities, airway obstruction, and feeding outcomes.

Main Results:

  • 100% of RS cases without CP (45/45) were syndromic, versus 64% with CP (83/130).
  • Among syndromic RS cases, no significant differences were found in airway obstruction severity, surgical rates, or feeding outcomes at 12 months based on CP status.
  • RS without CP was strongly associated with unrelated comorbidities.

Conclusions:

  • The pathogenesis of RS without CP appears distinct from RS with CP.
  • RS without CP is more frequently associated with additional medical or developmental problems.
  • Children with RS without CP and without other anomalies may be underdiagnosed.