A Neglected Case of Popliteal Pterygium Syndrome Presenting in Adulthood

Popliteal Pterygium Syndrome (PPS) is autosomal dominant syndrome with incomplete penetrance and variable expressivity. We report a case of 18-year-old female, who had repair of cleft of lip and palate in childhood, and now presented with paramedian bilateral lower lip pits. Examination revealed her to be a case of sporadic PPS. A comprehensive plan of management was formed, but the patient was lost to follow-up. We report the case for the purpose of educating the clinicians of this rare syndrome and highlighting the importance of proper counselling at index presentation.