Popliteal pterygium syndrome.

The popliteal pterygium syndrome is a highly characteristic congenital malformation syndrome affecting the face, limbs, and genitalia. Gorlin et all 2 coined the term 'popliteal pterygium syndrome' on the basis of the most unusual anomaly, the popliteal web. In some publications the names of Fevre and Languepin3 are used as an eponym. A more descriptive term suggested for the condition, on the basis of incomplete expression of the features of the syndrome, is 'faciogenitopopliteal syndrome'.4 However, the most widely used term for this disorder is 'popliteal pterygium syndrome'. Autosomal dominant inheritance with highly variable expressivity and incomplete penetrance is widely accepted. The term popliteal pterygium syndrome has also been used for two autosomal recessively inherited conditions,5 6 which are, however, clinically distinguishable.