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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: Novel syndromic association
Clinical Dysmorphology, Volume 20, No. 4, Year 2011
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Description
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. © 2011 Wolters Kluwer Health | Lippincott Williams &Wilkins.
Authors & Co-Authors
Al-Kaissi, Ali
Austria, Vienna
Auva Soziale Unfallversicherung
Austria, Vienna
Orthopedie Spital, Vienna
Roetzer, Katharina M.
Austria, Graz
Medizinische Universität Graz
Heitzer, Ellen
Austria, Graz
Medizinische Universität Graz
Ben Chehida, Farid
Tunisia, Tunis
Ibn Zohr Institute
Ben Ghachem, Maher
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Klaushofer, Klaus
Austria, Vienna
Auva Soziale Unfallversicherung
Grill, Franz
Austria, Vienna
Orthopedie Spital, Vienna
Statistics
Citations: 7
Authors: 7
Affiliations: 5
Identifiers
Doi:
10.1097/MCD.0b013e328349bc9b
ISSN:
09628827
e-ISSN:
14735717
Research Areas
Genetics And Genomics
Participants Gender
Female