Abstract
Pterygium Syndrome is an extremely rare and complex congenital disorder consisting of severe contractures involving multiple flexural surfaces and associated craniofacial abnormalities, including mandibular hypoplasia and epicanthic folds. It is also often associated with other congenital abnormalities of the cardiovascular, respiratory and genitourinary systems. It may present in different forms including multiple Pterygium Syndrome of Escobar, lethal multiple Pterygium Syndrome, Popliteal Pterygium Syndrome and Arthrogryposis Multiplex Congenita. The incidence is unknown, a mutation in the IRF6 gene has been found in the Popliteal varient and it is postulated that the pterygia result from the embryonic onset of foetal akinesia. The clinical presentation, multidisciplinary management and longterm outcome of three patients with this condition, managed in the Australian CranioFacial Unit will be presented.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
