Popliteal pterygium syndrome in a 74-year-old woman.
The case of a 74-year-old woman with the rare popliteal pterygium syndrome is presented. This syndrome is inherited as an autosomal dominant trait with incomplete penetrance and varying expression and consists of cleft lip and palate, lip pits, genital anomalies, popliteal pterygium, and malformations of the extremities. The various treatments our patient underwent over the years are reported. Treatment of popliteal pterygium involves special problems whem removing the skin fold because the nerve and vascular cords lie immediately anterior to the posterior fibrous cord. In the present case there are widespread arthrotic changes, both in the extremity joints and in the spine. These patients are short in stature. This, together with the general arthropathy, suggests a hereditary metabolic disturbance in the cartilaginous tissue.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000368:Aged; D001827:Body Height; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000235:genetics; D003025:Clubfoot / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital; D005836:Genitalia, Female / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006801:Humans; D007719:Knee Joint / Q000002:abnormalities; D011625:Pterygium / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D012868:Skin Abnormalities; D013577:Syndrome