Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association |
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| Authors: | Al Kaissi Ali Roetzer Katharina M Heitzer Ellen Ben Chehida Farid Ben Ghachem Maher Klaushofer Klaus Grill Franz |
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| Affiliation: | Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria. ali.alkaissi@osteologie.at |
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| Abstract: | ![]()
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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