[A rare case of popliteal pterygium syndrome].
The PPS (Popliteal Pterygium Syndrome) is a rare malformative syndrome, with autosomal dominant inheritance and variable penetrance, but always reduced. Sporadic cases also are reported. The ethiopatogenesis is unknown. The principal hypothesis is a arrest of development of parts based upon an imbalance between mesodermal migration and ectodermal proliferation. It dont appear relationships with race or sex. It is a syndrome of three polarity: orofacial, muscles-skeletonlike, genito-urinary. The Authors report a case and show the therapeutic procedures and the future program. The diagnosis, especially differential, is difficult for a lot of incomplete forms. Any of the Authors do diagnosis in according with Escobar, with the identification at least of three principal signs.
Giuliani
R
R
Divisione di Chirurgia Maxillofacciale, Azienda Sanitaria di Bologna, Ospedale Bellaria.
Trivisonno
A
A
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities*; D009958:Orofaciodigital Syndromes / Q000473:pathology*; D013576:Syndactyly / Q000473:pathology; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities*