The Facio-Genito-Popliteal Syndrome

Abstract

The most typical characteristics of the faciogenitopopliteal syndrome are cleft lip and palate, anomalies of the external genitalia and popliteal pterygium. Other anomalies, especially of the face and extremities, are also seen in nearly all cases. Seventeen cases with all these three components and equally many with no more than two of them have been described in the literature. The authors report a new case whose chromosomal status was normal and in whom unusually no heredity was established. Points relating to the pathogenesis and etiology of the syndrome are discussed.