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Syndromes associated with Robin sequence: a national prospective cohort study
  1. Alex Davies1,2,
  2. Amy Davies2,
  3. Yvonne Wren2,
  4. Scott Deacon1,
  5. Alistair Cobb1,
  6. Neil McLean3,
  7. David David3,
  8. Shaheel Chummun1
  1. 1South West Cleft Service, University of Bristol Dental Hospital, Bristol, UK
  2. 2The Cleft Collective, Faculty of Medicine and Dentistry, University of Bristol, Bristol, UK
  3. 3Craniofacial Australia, North Adelaide, South Australia, Australia
  1. Correspondence to Mr Alex Davies, University of Bristol Dental Hospital South West Cleft Service, Bristol BS1 2LY, UK; alex.davies{at}doctors.org.uk

Abstract

Objectives To determine the prevalence of syndromic Robin sequence (RS) in the UK and if this group of patients had an increased need for airway and feeding management compared with a non-syndromic RS cohort.

Design A prospective national multicentre study of cases submitted to the Cleft Collective cohort studies.

Setting Specialist cleft services in the UK.

Patients 259 participants who fulfilled the diagnosis of RS. This group was compared with 548 participants with cleft palate only (CPO).

Main outcome measures The primary outcome measure was the presence of a syndrome in patients with RS and CPO. Secondary outcome measures included the use of airway and feeding adjuncts.

Results An associated syndrome was seen in 28% of patients with RS and 14% of patients with CPO. The most common syndrome for the RS group was Stickler syndrome (27%). Syndromic status was significantly higher among patients with RS compared with those with CPO (OR 2.36, 95% CI 1.65 to 3.39; p<0.001). Patients with syndromic RS have an increased reliance on airway adjuncts compared with the patients without syndromic RS (OR 2.02, 95% CI 1.13 to 3.64; p=0.018). There was no evidence of a difference in the use of feeding adjuncts between syndromic and non-syndromic RS groups (OR 2.43, 95% CI 0.78 to 7.58; p=0.126).

Conclusion The presence of a syndrome has implications for management of patients with RS. Early identification of a syndrome may help prevent the consequences of a missed syndromic diagnosis. Routine ophthalmological and genetic screening for Stickler syndrome should be mandatory for all patients with RS.

  • Data Collection
  • Epidemiology
  • Paediatrics
  • Respiratory Medicine
  • Syndrome

Data availability statement

Data may be obtained from a third party and are not publicly available. This study used data from the Cleft Collective Cohort Studies. The data are set up as a supported access resource, available to bone fide researchers. Proposals to request access to the data should be sent to cleft-collective@bristol.ac.uk.

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Data availability statement

Data may be obtained from a third party and are not publicly available. This study used data from the Cleft Collective Cohort Studies. The data are set up as a supported access resource, available to bone fide researchers. Proposals to request access to the data should be sent to cleft-collective@bristol.ac.uk.

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Footnotes

  • Contributors AlD conceptualised and designed the study, drafted the initial manuscript, and reviewed and revised the manuscript. AmD designed the data collection instruments, collected data, carried out the initial analyses, and reviewed and revised the manuscript. YW, SD, AC, NM, SC and DD conceptualised the study, supervised data collection and critically reviewed the manuscript for important intellectual content. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work. AlD acts as guarantor for the overall content, conduct of the study and decision to publish.

  • Funding The Cleft Collective Cohort Study is funded by the Scar Free Foundation, the Underwood Trust and the Vocational Training Charitable Trust. This secondary data analysis was funded by Craniofacial Australia.

  • Disclaimer The funders had no role in design and conduct of the study; collection, management, analysis and interpretation of the data; and preparation, review or approval of the manuscript or the decision to submit to publication.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.