Details

Autor(en) / Beteiligte

• Paes, Emma C.
• van Nunen, Daan P. F.
• Basart, Hanneke
• Don Griot, J. Peter W.
• van Hagen, Johanna M.
• van der Horst, Chantal M. A. M.
• van den Boogaard, Marie-José H.
• Breugem, Corstiaan C.

Titel

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

Ist Teil von

• American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.1972-1982

Ort / Verlag

United States: Blackwell Publishing Ltd

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• 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. © 2015 Wiley Periodicals, Inc.