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Associated anomalies in Pierre Robin sequence.

Claude Stoll1, Y Alembick1, M P Roth1

  • 1Laboratoire de Génétique Médicale, Faculté de Médecine, Strasbourg, France.

American Journal of Medical Genetics. Part A
|July 21, 2023
PubMed
Summary
This summary is machine-generated.

Pierre Robin sequence (PRS) often occurs with other congenital anomalies. This study found nearly 70% of PRS cases had associated conditions, highlighting the need for comprehensive screening in affected infants.

Keywords:
airway obstructionassociated anomaliescleft palateglossoptosismicrognathiaretrognathia

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Medicine

Background:

  • Pierre Robin sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and airway obstruction.
  • PRS frequently co-occurs with a range of other congenital anomalies, though prevalence and types vary across studies.
  • Comprehensive understanding of associated anomalies is crucial for accurate diagnosis and management of PRS.

Purpose of the Study:

  • To investigate the types and prevalence of congenital anomalies associated with Pierre Robin sequence (PRS).
  • To analyze the spectrum of co-occurring conditions in a large, population-based cohort in northeastern France.
  • To provide evidence supporting thorough screening for additional anomalies in PRS cases.

Main Methods:

  • A population-based registry of congenital anomalies was utilized, covering all pregnancy terminations, stillbirths, and live births from 1979-2007.
  • Data from 387,067 births were analyzed to identify cases of Pierre Robin sequence (PRS).
  • Prevalence of PRS and associated non-PRS anomalies, including chromosomal abnormalities and recognizable syndromes, were ascertained.

Main Results:

  • A total of 89 PRS cases were identified, with a prevalence of 2.29 per 10,000 births.
  • Nearly 70% (69.7%) of PRS cases exhibited associated non-PRS anomalies.
  • Commonly associated anomalies included chromosomal abnormalities (11.2%), recognizable syndromes (30.3% - Stickler, Treacher Collins), and multiple congenital anomalies (MCA) affecting the ear, face, neck, cardiovascular, and musculoskeletal systems.

Conclusions:

  • Pierre Robin sequence (PRS) is frequently accompanied by a significant burden of other congenital anomalies.
  • The high prevalence of associated conditions underscores the necessity for systematic and thorough screening in all infants diagnosed with PRS.
  • Early identification of co-occurring anomalies can lead to timely intervention and improved patient outcomes.