| Pr38 pterygium syndrome: a spectrum of features. | |
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MedLine Citation:
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PMID: 17490268 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. |
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Authors:
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N R McLean; S Y Parashar; P J Anderson; M Djohansjah; D J David |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: ANZ journal of surgery Volume: 77 Suppl 1 ISSN: 1445-1433 ISO Abbreviation: - Publication Date: 2007 May |
Date Detail:
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Created Date: 2007-05-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101086634 Medline TA: ANZ J Surg Country: Australia |
Other Details:
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Languages: eng Pagination: A69 Citation Subset: IM |
Affiliation:
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Australian CranioFacial Institute, South Australia, Australia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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