Birth Prevalence of Robin Sequence in the Netherlands From 2000-2010: A Retrospective Population-Based Study in a Large Dutch Cohort and Review of the Literature

作者：Paes Emma C^*; van Nunen Daan P F; Basart Hanneke; Griot J Peter W Don; van Hagen Johanna M; van der Horst Chantal M A M; van den Boogaard Marie Jose H; Breugem Corstiaan C

来源：American Journal of Medical Genetics, Part A, 2015, 167(9): 1972-1982.

DOI：10.1002/ajmg.a.37150

• (Pierre) Robin sequence
• cleft palate
• epidemiology
• birth prevalence

The birth prevalence of Robin sequence (RS) is frequently cited to be 1 in 8,500 to 14,000 live births (range: 7,1-11,8 per 100.000), which is based on just a few epidemiological studies. The objective of this study is to contribute to the limited knowledge of the epidemiology of RS by determining the frequency of RS in a cleft palate (CP) population and the estimated birth prevalence in live births in the Netherlands, using distinct diagnostic criteria. A retrospective population-based analysis of the National Cleft Registry was performed in order to obtain all CP patients registered in the Netherlands from 2000-2010, in addition to a thorough review of the medical records in three Dutch Academic Pediatric Hospitals for the same period. Furthermore, a systematic search of the literature was conducted to allow for comparison of our findings. The Dutch birth prevalence of RS was estimated to be 1: 5,600 live births (or 17.7 per 100,000), with a slight female predominance. RS was estimated to occur in a third of the CP population and patients with RS had a more severe cleft grade than the general CP population. The literature search yielded 42 studies reporting the birth prevalence for RS, which varied between 1: 3,900 and 1: 122,400 (0.8-32.0 per 100,000), with a mean prevalence of 1: 24,500 (8.0 per 100,000). The birth prevalence of RS in the Netherlands was higher than reported for most other countries when similar diagnostic criteria were used, with a slight female predominance. A third of the general CP could be classified as RS.

• 出版日期2015-9