| Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association. | |
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MedLine Citation:
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PMID: 21814137 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Facial dysmorphism associated with distinctive spine abnormalities has been encountered in a girl and her mother. A three-dimensional reformatted spinal computed tomography scan showed a combination of distinctive abnormalities such as failure of anterior formation of the vertebral bodies, malsegmentation, and Forestier disease. Mutations were not found in the GDF6 gene. We describe a hitherto undescribed autosomal dominant entity. |
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Authors:
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Ali Al Kaissi; Katharina M Roetzer; Ellen Heitzer; Farid Ben Chehida; Maher Ben Ghachem; Klaus Klaushofer; Franz Grill |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-2 |
Journal Detail:
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Title: Clinical dysmorphology Volume: - ISSN: 1473-5717 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-8-4 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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aLudwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital bDepartment of Paediatric, Orthopaedic Hospital of Speising, Vienna cInstitute of Human Genetics, Medical University of Graz, Graz, Austria dDepartment of Imaging Studies, Center of Radiology, Ibn Zohr Institute, Tunis eDepartment of Paediatric Orthopaedic Surgery-Children Hospital of Tunis, Jabari, Tunisia. |
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