Abstract
A Neglected Case of Popliteal Pterygium Syndrome Presenting in Adulthood
Highlights
Popliteal Pterygium Syndrome (PPS) is autosomal dominant syndrome with incomplete penetrance and variable expressivity [1]
Examination of face revealed maxillary retrusion, scar on left upper lip indicating repaired cleft lip, broad philtrum, bilateral paramedian pits on lower lip vermillion, equidistant (5 mm) from midline, with serous fluid oozing from the pits, obtuse left alar-facial groove, asymmetrical nose with broad tip, left ala more posteriorly and laterally positioned, left nostril wider than right, obtuse angle between medial and lateral crus of left alar cartilage and caudal end of columella deviated to the right (Figure 1, Figure 2 and Figure 3)
Left upper medial and lateral incisors were absent and left upper canine had erupted into the cleft (Figure 4)
Summary
Popliteal Pterygium Syndrome (PPS) is autosomal dominant syndrome with incomplete penetrance and variable expressivity [1]. An 18-year-old female, from tribal background, presented with two lower lip pits and a limping gait (Figure 1). It was first described by Trelat in 1869, named after its most characteristic feature, a web of skin between thigh and leg, present in 96% cases [2].
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