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Pierre Robin syndrome: an update.

H O Olasoji1, P J Ambe, O A Adesina

  • 1Department of Oral and Maxillofacial Surgery, University of Maiduguri Teaching Hospital, Maiduguri, Nigeria.

The Nigerian Postgraduate Medical Journal
|June 30, 2007
PubMed
Summary

Pierre Robin sequence is a grouping of malformations, not a distinct syndrome. Recent findings highlight its heterogeneity and the need for comprehensive patient care due to associated conditions.

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Area of Science:

  • Medical genetics
  • Pediatric medicine
  • Clinical diagnostics

Background:

  • Pierre Robin sequence (PRS) is a recognized medical eponym.
  • Historically viewed as a specific syndrome, its understanding is evolving.
  • PRS is characterized by micrognathia, cleft palate, and upper airway obstruction.

Purpose of the Study:

  • To review historical perspectives on Pierre Robin.
  • To provide an update on current clinical observations and understanding of PRS.
  • To clarify the diagnostic and prognostic significance of PRS.

Main Methods:

  • Comprehensive literature search using MEDLINE, EMBASE, AJOL, and OMIM databases.
  • Search terms included 'Pierre Robin syndrome', 'Robin anomalad', and 'Robin sequence (RS)'.
  • Review of published articles up to March 2006.

Main Results:

  • PRS is now understood as a cluster of clinical findings, not a distinct multiple anomaly syndrome.
  • Evidence points to etiological heterogeneity, with distinct cytogenetic anomalies identified.
  • The condition is now referred to as 'Pierre Robin sequence'.

Conclusions:

  • Infants with PRS can experience diverse and emergent health issues.
  • Awareness of associated syndromes and syndromic features is crucial for effective patient management.
  • Research is ongoing to identify candidate loci and genes associated with PRS.

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