Syndromes associated with Robin sequence: a national prospective cohort study

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.

Keywords: Data Collection; Epidemiology; Paediatrics; Respiratory Medicine; Syndrome.