Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream ofSOX9, and includingKCNJ2andKCNJ16

2015 ◽  
Vol 106 (1) ◽  
pp. 61-68 ◽  
Author(s):  
Marco Castori ◽  
Irene Bottillo ◽  
Silvia Morlino ◽  
Chiara Barone ◽  
Piero Cascone ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Pierre Robin Sequence ◽  
Campomelic Dysplasia ◽  
Robin Sequence ◽  
Generation Family ◽  
Acampomelic Campomelic Dysplasia ◽  
Pierre Robin

Pierre Robin Sequence With Esophageal Atresia and Congenital Radioulnar Synostosis

2006 ◽  
Vol 43 (3) ◽  
pp. 317 ◽  
Author(s):  
Keramettin Ugur Ozkan ◽  
Yusuf Kenan Coban ◽  
Murat Uzel ◽  
Mehmet Ergun ◽  
Hafize Oksuz
Keyword(s):  
Esophageal Atresia ◽  
Pierre Robin Sequence ◽  
Radioulnar Synostosis ◽  
Robin Sequence ◽  
Congenital Radioulnar Synostosis ◽  
Pierre Robin

scholarly journals Epidemiology of Pierre‐Robin sequence in Europe: A population‐based EUROCAT study

2021 ◽  
Author(s):  
Michele Santoro ◽  
Alessio Coi ◽  
Ingeborg Barišić ◽  
Anna Pierini ◽  
Marie‐Claude Addor ◽  
...  
Keyword(s):  
Population Based ◽  
Pierre Robin Sequence ◽  
Robin Sequence ◽  
Pierre Robin

A Systematic Review of Mandibular Distraction Osteogenesis Versus Orthodontic Airway Plate for Airway Obstruction Treatment in Pierre Robin Sequence

2021 ◽  
pp. 105566562110118
Author(s):  
Darren B. Abbas ◽  
Christopher Lavin ◽  
Evan J. Fahy ◽  
HyeRan Choo ◽  
Mai Thy Truong ◽  
...  
Keyword(s):  
Airway Obstruction ◽  
Distraction Osteogenesis ◽  
Literature Search ◽  
Oral Feeding ◽  
Treatment Modalities ◽  
Pierre Robin Sequence ◽  
Mandibular Distraction ◽  
Robin Sequence ◽  
Mandibular Distraction Osteogenesis ◽  
Pierre Robin

Objective: Mandibular distraction osteogenesis (MDO) is frequently performed to address airway obstruction in patients with Pierre Robin sequence (PRS), though more recently the technique of orthodontic airway plating (OAP) has gained traction. We aimed to evaluate OAP compared to MDO for airway obstruction in PRS. Design: A systematic literature search across PubMed, Embase, and Google Scholar identified all studies published in English, which involved MDO or any form of OAP as treatments for PRS. All relevant articles were reviewed in detail and reported on, adhering to PRISMA guidelines. Main Outcome Measures: Airway (tracheostomy avoidance, decannulation rate), feeding (full oral feeding tolerance). Results: Literature search identified 970 articles, of which 42 MDO studies and 9 OAP studies met criteria for review. A total of 1159 individuals were treated with MDO, and 322 individuals were treated with OAP. Primary outcomes appear similar for MDO and OAP at face value; however, this must be interpreted with different pretreatment contexts in mind. Conclusions: Orthodontic airway plating may be considered for airway obstruction in PRS, as some airway-related and feeding-related outcomes appear similar with MDO, per existing evidence in the literature. However, since PRS severity differed between studies, OAP cannot be uniformly considered a replacement for MDO. Further research is required to more comprehensively assess these treatment modalities inclusive of metrics that allow for direct comparison.

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