Aims Pierre Robin Sequence (PRS) is a rare, congenital disorder characterised by micrognathia, glossoptosis and cleft palate. Aetiology is reported to include genetic factors and early intrauterine exposure to environmental toxins or compressive forces (e.g. oligohydramnios, twin pregnancy). Epidemiological data are sparse, though available evidence suggests incidence is 1:8500 to 1:14000 live births with a possible trend towards increasing incidence over time. We aimed to determine the incidence of PRS over a 9-year period in a UK region with a 2.4 million population and to identify trends in incidence and geographical variation.
Methods Children born between January 2004 and December 2012 with a diagnosis of PRS made by a Consultant Cleft Surgeon were identified by manually searching a patient database maintained by our regional Cleft Service. Case notes were retrospectively reviewed to verify the diagnosis and collect data relating to aetiology, clinical presentation, associated abnormalities, management and outcome.
Results 91 PRS cases (52% male) were identified from a cohort of 254 000 live births during the 9-year study period, giving an incidence of 1:2790 live births. Annual incidence varied from 1:1570 to 1:5870 live births (5–19 cases per year; median 9, mean 10), with no significant incidence trends across the study period. Incidence varied across eight Health Boards within the region, ranging from 1:1440 to 1:5300 live births, and showed a trend of increasing incidence with decreasing latitude. Data analysis of secondary outcomes is ongoing.
Conclusions This study identifies an incidence of PRS within a large UK region that is 3-fold higher than the last published UK epidemiological study (1983, Liverpool) and 5-fold higher than the only comparable national study (2004, Denmark). We identified no incidence trends over the study period but note clear geographical variations within an area spanning 59 000 km2 and including 42% of our national population. Further work is required to ascertain whether our findings are replicated across the UK, and to investigate possible aetiological causes for the geographical differences identified. The authors have been awarded a BPSU bursary to conduct a 1-year national UK surveillance study which will aim to address these questions.
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