Pierre Robin sequence: Subdivision, data, theories, and treatment - Part 2: Syndromic and nonsyndromic 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. 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, relating to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management.

AIMS OF PART 2: Contribute to the sparse scientific knowledge about pathogenesis and involved genetics.

SUBJECTS AND METHODS: An analysis of this large database was conducted focusing on genetic involvement, family history, and the incidence of additional syndromes.

RESULTS: Beside of differences related to clinical signs of dyspnea, feeding problems and mortality rates, various concomitant syndromes, and genetic abnormalities were found in cases of Fairbairn-Robin triad (FRT) and Siebold-Robin sequence (SRS), in addition to differences in relation to clinical signs of dyspnea, feeding problems, and mortality rates.

CONCLUSION: Multiple FRT cases presented with various concomitant syndromes and genetic abnormalities, but only one type occurred in two SRS cases. The latter presented a significantly different mortality rate when compared to the FRT subgroup.