Popliteal Pterygium Syndrome

WILLIAM OPPENHEIM, MD, AND YOSHIO SETOGUCHI, MD**Los Angeles, California


The association of popliteal pterygia, genitourinary anomalies and craniofacial malformations was first described in 1869. Since then 30 cases have been reported, and Gorlin and others have written extensive reviews of the syndrome.

Although the condition is rare, the Child Amputee Clinic at UCLA has had eight cases. Two required amputations. Four areas are involved: craniofacial anomalies, including cleft lip with and without cleft palate, syngnathia and lip pits; cutaneous malformations, including pterygium, toenail dysplasia and digital dysplasia; musculoskeletal anomalies, including hyperplastic tibia and patella, scoliosis and vertebral anomalies, congenital hip dysplasia and spina bifida occulta; and genitourinary anomalies, such as cryptorchism, absent or ectopic scrotum, absence or displaced labia majora and hypoplastic uterus. None of our cases has shown mental retardation. Evidence points to an autosomal dominant inheritance pattern with variable expressivity and incomplete penetrance.

Orthopedically, soft tissue release of the knee, avoiding injury to the often displaced sciatic nerve, followed by distal femoral extension osteotomy allowed satisfactory ambulation. Amputation was reserved for those with tibial hemimelia. Tight heel cords are released early to prevent the development of rocker-bottom feet.

**University of California, Child Amputee Prosthetics Project, 1000 Veteran Avenue, Los Angeles, CA 90024