The popliteal pterygium syndrome: distinct phenotypic variation in two families

Two families with two and four members, respectively, affected with the autosomal dominantly inherited popliteal pterygium syndrome (PPS), are reported. In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia. One patient in addition had bilateral meatal atresia, a finding hitherto unreported in patients with this syndrome. In both families, one parent and in one, additional members were mildly affected, and both families include members with lip pits as the only manifestation of the PPS. This syndrome has to be considered in patients manifesting only lip pits with or without clefts.