Knee pterygium syndrome in a newborn infant

We report on a newborn boy with popliteal pterygium syndrome. Congenital anomalies included popliteal pterygia, symblepharon, cleft lip and palate with syngnathia, severe hypoplasia of both thumbs, a characteristic nail anomaly of both first toes, multiple syndactylies, and a hypoplastic scrotum with cryptorchidism. Mental development can be expected to be normal. Overall prognosis of the disorder after detailed operative correction is apparently favorable. Differential diagnosis is discussed in detail. The syndrome is autosomal dominantly inherited, our patient represents an isolated case.