Epidemiology of Robin sequence: geographical variation in the UK/Ireland

Introduction 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...
Source: Archives of Disease in Childhood - Category: Pediatrics Authors: Tags: Editorial Source Type: research