| Antley-Bixler-Syndrome - Staged management of craniofacial malformations from birth to adolescence - A case report. | |
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MedLine Citation:
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PMID: 21146417 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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In 1975 Antley and Bixler described an unusual syndromal disorder consisting of complex craniosynostosis with midfacial hypoplasia, dysplasia of ears and nose, radiohumeral synostosis, congenital fractures of the femur and upper airway impairment in a newborn. Additional urogenital and cardiac malformations can be associated however diagnosis is based on a characteristic craniofacial deformity in association with humeroradial synostosis. Complex disturbance of craniofacial growth due to premature synostoses of the cranial base and vault results in a characteristic phenotype. Steroidogenesis due to intrinsic or extrinsic disturbance by maternal fluconazole ingestion during early pregnancy may be impaired. The mode of inheritance is supposed to be autosomal recessive. Mutations in the fibroblast growth factor receptor 2 (FGFR2) as well as mutations in the cytochrome P450 oxidoreductase (OR) gene have been verified. Like in other craniofacial dysostosis syndromes malformation of neuro- and viscerocranium is complex and requires a staged age- and growth-related interdisciplinary management with respect to the individual situation. This case report of a female patient born in 1994 suffering from that rare syndrome describes the interdisciplinary long-term management in one craniofacial centre over 16 years from birth to adolescence. |
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Authors:
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Nicolai Adolphs; Martin Klein; Ernst-Johannes Haberl; Luitgard Graul-Neumann; Horst Menneking; Bodo Hoffmeister |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2010-12-9 |
Journal Detail:
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Title: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery Volume: - ISSN: 1878-4119 ISO Abbreviation: - Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-12-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8704309 Medline TA: J Craniomaxillofac Surg Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2010 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Oral and Maxillofacial Surgery (Head: Prof. Dr. med. Dr. med. dent. Bodo Hoffmeister), Surgical Robotics and Navigation, Universitätsmedizin Berlin Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, D-13353 Berlin, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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