title: 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.
abstract: 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.
authors.affiliation: Department of Plastic, Reconstructive and Hand Surgery, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
authors.forename: Emma C
authors.initials: EC
authors.lastname: Paes
authors.affiliation: Department of Plastic, Reconstructive and Hand Surgery, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
authors.forename: Daan P F
authors.initials: DP
authors.lastname: van Nunen
authors.affiliation: Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Hospital, Amsterdam, The Netherlands.
authors.forename: Hanneke
authors.initials: H
authors.lastname: Basart
authors.affiliation: Department of Plastic, Reconstructive and Hand Surgery, VU Medical Center, Amsterdam, The Netherlands.
authors.forename: J Peter W
authors.initials: JP
authors.lastname: Don Griot
authors.affiliation: Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands.
authors.forename: Johanna M
authors.initials: JM
authors.lastname: van Hagen
authors.affiliation: Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Hospital, Amsterdam, The Netherlands.
authors.forename: Chantal M A M
authors.initials: CM
authors.lastname: van der Horst
authors.affiliation: Department of Clinical Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
authors.forename: Marie-José H
authors.initials: MJ
authors.lastname: van den Boogaard
authors.affiliation: Department of Plastic, Reconstructive and Hand Surgery, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
authors.forename: Corstiaan C
authors.initials: CC
authors.lastname: Breugem
mesh_terms: D002971:Cleft Lip / Q000453:epidemiology; D002972:Cleft Palate / Q000453:epidemiology; D005260:Female; D006801:Humans; D050498:Live Birth / Q000453:epidemiology; D008297:Male; D009426:Netherlands / Q000453:epidemiology; D010855:Pierre Robin Syndrome / Q000453:epidemiology*; D015995:Prevalence; D012189:Retrospective Studies
keywords: (Pierre) Robin sequence; birth prevalence; cleft palate; epidemiology