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Published on: May 9, 2011
Pierre Robin sequence: a series of 117 consecutive cases
M Holder-Espinasse1, V Abadie, V Cormier-Daire
1Department of Genetics, Necker Enfants-Malades Hospital, Paris, France.
The Journal of Pediatrics
|October 13, 2001
Summary
This study classified 117 Pierre Robin Sequence cases into isolated, syndromic, and associated anomalies. The group with anomalies showed a poor prognosis, while isolated cases had familial links and twin incidence.
Area of Science:
- Pediatric Genetics
- Craniofacial Anomalies
- Developmental Biology
Background:
- Pierre Robin Sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and airway obstruction.
- Understanding the etiological and prognostic variations within PRS is crucial for clinical management.
Purpose of the Study:
- To classify a cohort of Pierre Robin Sequence cases based on their etiological category.
- To investigate the clinical characteristics and long-term prognosis associated with different PRS classifications.
Main Methods:
- Retrospective analysis of 117 cases diagnosed with Pierre Robin Sequence.
- Classification into isolated PRS, syndromic PRS, and PRS with associated anomalies.
- Review of clinical data and long-term outcomes for each subgroup.
Main Results:
- The cohort comprised 48% isolated PRS, 35% syndromic PRS, and 17% PRS with associated anomalies.
- The PRS with associated anomalies group exhibited a significantly poorer long-term prognosis.
- Isolated PRS cases demonstrated a notable incidence of familial recurrence and twin births.
- Four specific syndromes accounted for over half of the syndromic PRS diagnoses.
Conclusions:
- Classification of Pierre Robin Sequence into isolated, syndromic, and associated anomalies is essential for predicting patient outcomes.
- The presence of additional anomalies is a critical indicator of a poor long-term prognosis in PRS.
- Further research into the genetic and environmental factors contributing to PRS subtypes is warranted.
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