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Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association.

Clin Dysmorphol

October 2011

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital Department of Paediatric, Orthopaedic Hospital of Speising, Vienna Institute of Human Genetics, Medical University of Graz, Graz, Austria Department of Imaging Studies, Center of Radiology, Ibn Zohr Institute, Tunis Department of Paediatric Orthopaedic Surgery-Children Hospital of Tunis, Jabari, Tunisia.

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.

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