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Robin Sequence: Continuing Heterogeneity in Nomenclature and Diagnosis
Daan P F van Nunen1, Marie-José H van den Boogaard2, Corstiaan C Breugem1
1Division of Plastic and Reconstructive Surgery.
The Journal of Craniofacial Surgery
|February 28, 2018
Summary
A 2009 debate on Pierre Robin syndrome/sequence nomenclature and diagnostic criteria did not achieve consensus. Research continues to use varied terms and criteria, hindering interpretation and management of this congenital condition.
Area of Science:
- Medical research
- Congenital disorders
- Medical nomenclature
Background:
- Pierre Robin syndrome/sequence is a congenital condition with inconsistent naming and diagnostic criteria.
- Research interpretation has been hampered by this heterogeneity.
- A 2009 discussion aimed to establish uniform terminology and diagnostic standards.
Purpose of the Study:
- To evaluate the impact of the 2009 debate on nomenclature and diagnostic criteria for Pierre Robin syndrome/sequence.
- To assess changes in terminology and diagnostic practices in published literature.
Main Methods:
- Retrospective review of MEDLINE-indexed studies from 2009-2016.
- Analysis of nomenclature (syndrome vs. sequence) and diagnostic criteria used in research.
Main Results:
- "Pierre Robin sequence" and "Robin sequence" were the most common eponyms.
- A significant shift towards using "sequence" over "syndrome" was observed.
- Diagnostic criteria remained heterogeneous, with only 71.4% of studies specifying them.
Conclusions:
- The 2009 debate failed to establish a consensus eponym or standard diagnostic criteria.
- Continued heterogeneity complicates management and literature retrieval for Pierre Robin sequence.
- A renewed effort is necessary to achieve consensus for improved research and clinical practice.
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