Pierre Robin sequence (PRS) is a rare congenital malformation sequence characterised by micrognathia, glossoptosis and upper airway obstruction, often in association with a wide U-shaped cleft palate.1 The aetiology of non-syndromic PRS (nsPRS) remains uncertain; however, non-isolated PRS can present as part of a wider syndromic diagnosis1 (syndromic PRS (sPRS)). PRS is reported to have a prevalence of ~1/8000 to 1/14000 live births.1 2 A recent study by Wright et al (ADC), which used dual-source case ascertainment and active surveillance methods, estimated a PRS prevalence of 1:5246 live births.1 This is significantly higher than previous estimates, which may have been miscalculated.1 Importantly, this study also identified a striking geographical variation in prevalence estimates, which were lowest in England and Wales (1/5789), higher in Ireland (1/4635) and highest in Scotland (1/2692).1 These findings are broadly corroborated by an earlier study by Wright et al (2018), which identified a PRS incidence of 1/2685 in an East of Scotland patient cohort.2 This is significantly higher than previously reported estimates in the UK and globally.

PRS is a complex condition that presents on a clinical spectrum and potentially as part of a wider syndrome: it is liable to misdiagnosis and requires specialist diagnostic expertise. Milder cases without respiratory distress, airway obstruction or hospital admission can be easily missed.1 The prenatal diagnosis of the condition is difficult and in cases of intrauterine death or stillbirth, access to postmortem examination may not be ubiquitous.3 A notable source of …