Due to the lack of original studies, a quantitative analysis was not possible. The gene mutation in sPRS was specific to the associated syndrome. Based on the review, SOX9 was found to be the most common gene associated with both nsPRS and sPRS. Genetic mutations were noted in 30.9% of the 300 cases. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS.
From the remaining 39 articles included in the review, details of 324 cases were extracted. The full-text assessment led to the further exclusion of 76 articles. 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 present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). 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.
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