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Clin Dysmorphol. 2011 Oct;20(4):182-6. doi: 10.1097/MCD.0b013e328349bc9b.

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

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  • 1Ludwig 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

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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