Vol. 10, Issue 1, Part C (2024)

Pierre Robin Sequence (PRS) is a rare congenital birth defect wherein one malformation leads to a chain of events causing the formation of other anomalies. The first abnormality that is developed is Micrognathia leading to glossoptosis and, ultimately to airway obstruction and/or a cleft palate in an affected patient. It has a higher incidence among twins. Although the exact cause of the defect is unknown but it can be caused by mutations in various chromosomes. There are two types of this defect: isolated/Non Syndromic and Syndromic Pierre Robin Sequence (PRS). There are numerous other differential diagnoses with near to similar clinical manifestations; thus, a genetic evaluation should be considered for infants to identify a specific syndromic diagnosis and various other diagnostic tests are further required to rule out the functional and structural defects in the patient. Management of the defect is patient oriented, multi-phased and surgery is performed to solve the functional problems often associated with airway impairment of the patients.