Syndromes associated with Robin sequence: a national prospective cohort study

Abstract

ObjectivesTo 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.DesignA prospective national multicentre study of cases submitted to the Cleft Collective cohort studies.SettingSpecialist cleft services in the UK.Patients259 participants who fulfilled the diagnosis of RS. This group was compared with 548 participants with cleft palate only (CPO).Main outcome measuresThe 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.ResultsAn 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).ConclusionThe 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.