![]() This would help the parents to decide upon medical termination of pregnancy based on the severity of the syndrome. It is an interesting fact that PRS and genetic mutations associated with PRS could be detected during the prenatal period as early as the first trimester of pregnancy. Thorough knowledge of the genetic mutations associated with the syndrome could aid in the early confirmatory diagnosis of the disease and formulate an appropriate treatment plan. Although several studies and case reports have reported a wide range of genetic mutations in both sPRS and nsPRS, there is no available comprehensive literature on the genetic mutations associated with the reported cases of PRS to date. The advent of molecular biology has provided a platform to decode the genetic profile of PRS. The mortality rates are higher in children with other associated syndromes, cardiac, and central nervous system-related comorbidities. The mortality rates of children diagnosed with PRS range between 1.7 and 65%. The priority of the treatment protocol is to maintain the viability of the upper respiratory tract. A complete clinical evaluation is required to assess the severity of the disease and to formulate the ideal treatment plan (conservative or surgical management). It is important to distinguish between nsPRS and sPRS as the treatment strategy in the latter would have to account for PRS and the associated syndrome. Considering the pathogenesis of the disease, 3 major theories have been proposed: mechanical theory, neurological maturation theory, and mandible compression theory. Several studies have assessed the genetic mutations that have been associated with nsPRS and sPRS. About 34 syndromes have been reported to be associated with PRS. Studies have reported that around 50% of all PRS cases are sPRS. The highest incidence rate reported is 1 per 3,120 live births in the USA. The disease is rare in occurrence with an incidence rate from 1/8,500 to 1/30,000 newborns. In some cases, nonsyndromic PRS is associated with other malformations and they have been termed as PRS Plus. This heterogenic entity can occur isolated as nonsyndromic PRS (nsPRS) or in association with other syndromes (sPRS). coined the term Pierre Robin syndrome or sequence (PRS). The frequent association of cleft palate with the abovementioned triad was reported in 1934. 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.Ī triad of micrognathia, glossoptosis, and obstruction of the upper airways was first reported by the Parisian stomatologist Pierre Robin in 1923. Thus, future studies must focus on conducting large-scale cohort studies. 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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