Pierre Robin syndrome: an update

Abstract

Objectives: 'Pierre Robin' is one of the most readily recognised eponyms in medicine, yet it is a poorly understood nonspecific grouping of malformations that has no prognostic significance. Previously known as 'Pierre Robin syndrome', the way this diagnostic entity is viewed is now undergoing change. It is the purpose of this paper to review previous thinking about Robin and provide an update on recent clinical observations.

Sources of data: A computerised literature search using MEDLINE, EMBASE, AJOL and OMIM was conducted for published articles up to March 2006. Mesh phrases used in the search were: Pierre Robin syndrome, Robin anomalad and Robin sequence (RS).

Results: This relatively uncommon association of micrognathia with cleft palate and upper airway obstruction which was initially thought to be a specific disease and entire treatment regimens established to deal with presumed problems is now understood to be a grouping of clinical findings that does not represent a distinct multiple anomaly syndrome. The condition is therefore now described as 'Pierre Robin sequence'. Evidence of distinct cytogenetic anomalies has also highlighted the aetiological heterogeneity associated with RS in recent times.

Conclusion: Infants with Robin sequence can present with varied problems, some of them emergencies. Clinicians must be aware of the high prevalence of associated syndromes and the possible contribution of other syndromic features to the problems for proper patient care. Candidate loci and potential candidate genes are currently being proposed in the literature for RS.