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Syndromes associated with Robin sequence: a national prospective cohort study.

Alex Davies1,2, Amy Davies2, Yvonne Wren2

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|November 14, 2022
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Summary

Syndromic Robin sequence (RS) is more common than previously thought and requires more airway support. Early identification of associated syndromes, like Stickler syndrome, is crucial for effective patient management.

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Area of Science:

  • Craniofacial anomalies
  • Genetics
  • Pediatric care

Background:

  • Robin sequence (RS) is a congenital condition affecting facial development.
  • The prevalence and syndromic associations of RS require further investigation.
  • Understanding these associations impacts clinical management and patient outcomes.

Purpose of the Study:

  • To determine the prevalence of syndromic Robin sequence (RS) in the UK.
  • To compare airway and feeding management needs between syndromic and non-syndromic RS patients.
  • To assess the association between syndromic status and the need for airway/feeding adjuncts.

Main Methods:

  • Prospective national multicenter study within UK specialist cleft services.
  • Inclusion of 259 participants with RS and comparison with 548 participants with cleft palate only (CPO).
  • Primary outcome: presence of a syndrome; Secondary outcomes: use of airway and feeding adjuncts.

Main Results:

  • 28% of RS patients had an associated syndrome, most commonly Stickler syndrome (27%).
  • Syndromic RS patients showed significantly higher rates of airway adjunct use (OR 2.02) compared to non-syndromic RS.
  • No significant difference in feeding adjunct use between syndromic and non-syndromic RS groups.

Conclusions:

  • Syndromic status significantly impacts the management of Robin sequence patients.
  • Early identification of syndromes in RS is vital to prevent complications from missed diagnoses.
  • Mandatory ophthalmological and genetic screening for Stickler syndrome in all RS patients is recommended.