Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review

Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: “Pierre Robin syndrome/sequence AND gene mutation.” The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, SOX9 was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.

Correlation between clinical risk factors and tracheal intubation difficulty in infants with Pierre-Robin syndrome: A retrospective study

Background: Difficult tracheal intubation is a common problem encountered by anesthesiologists in the clinic. This study was conducted to assess the difficulty of tracheal intubation in infants with Pierre Robin syndrome (PRS) by incorporating computed tomography (CT) to guide airway management for anesthesia. Methods: In this retrospective study, we analyzed case-level clinical data and CT images of 96 infants with PRS. First, a clinically experienced physician labeled CT images, after which the color space conversion, binarization, contour acquisition, and area calculation processing were performed on the annotated files. Finally, the correlation coefficient between the seven clinical factors and tracheal intubation difficulty, as well as the differences in each risk factor under tracheal intubation difficulty were calculated. Results: The absolute value of the correlation coefficient between the throat area and tracheal intubation difficulty was 0.54; the observed difference was statistically significant. Body surface area, weight, and gender also showed significant difference under tracheal intubation difficulty. Conclusions: There is a significant correlation between throat area and tracheal intubation difficulty in infants with PRS. Body surface area, weight and gender may have an impact on tracheal intubation difficulty in infants with PRS.

Correlation between clinical risk factors and tracheal intubation difficulty in infants with Pierre-Robin syndrome: A retrospective study

Background: Difficult tracheal intubation is a common problem encountered by anesthesiologists in the clinic. This study was conducted to assess the difficulty of tracheal intubation in infants with Pierre Robin syndrome (PRS) by incorporating computed tomography (CT) to guide airway management for anesthesia. Methods: In this retrospective study, we analyzed case-level clinical data and CT images of 96 infants with PRS. First, a clinically experienced physician labeled CT images, after which the color space conversion, binarization, contour acquisition, and area calculation processing were performed on the annotated files. Finally, the correlation coefficient between the seven clinical factors and tracheal intubation difficulty, as well as the differences in each risk factor under tracheal intubation difficulty were calculated. Results: The absolute value of the correlation coefficient between the throat area and tracheal intubation difficulty was 0.54; the observed difference was statistically significant. Body surface area, weight, and gender also showed significant difference under tracheal intubation difficulty. Conclusions: There is a significant correlation between throat area and tracheal intubation difficulty in infants with PRS. Body surface area, weight and gender may have an impact on tracheal intubation difficulty in infants with PRS.