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Syndromes associated with Robin sequence: a national prospective cohort study
Alex Davies1,2, Amy Davies2, Yvonne Wren2
1South West Cleft Service, University of Bristol Dental Hospital, Bristol, UK alex.davies@doctors.org.uk.
Archives of Disease in Childhood
|November 14, 2022
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.
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.
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