Pierre Robin sequence: Subdivision, data, theories, and treatment - Part 3: Prevailing controversial theories related to Pierre Robin sequence.

CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management.

AIM: The aims of Part 3 debate the controversial biological theories relating to PRS.

MATERIALS AND

METHODS

Oligo-/poly-hydramnios, mandibular catch-up growth, and midfacial hyperplasia, the three in the literature most prevailing theories related to PRS, have been compared and discussed with the findings provided by this large database of 266 Siebold-Robin sequence (SRS) and Fairbairn-Robin triad (FRT) cases.

RESULTS

History and clinical findings evaluated in this database refute the first two theories. Although manifold midfacial appearances were demonstrated in FRT cases, a third of all SRS cases presented with mid-facial hyperplasia.

CONCLUSION

The three main biological theories regarding PRS could not be verified after thorough analysis of the database.