Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Al Kaissi, A; Roetzer, KM; Heitzer, E; Ben Chehida, F; Ben Ghachem, M; Klaushofer, K; Grill, F.
Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association
CLIN DYSMORPHOL. 2011; 20(4): 182-186.
Doi: 10.1097/MCD.0b013e328349bc9b
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Heitzer Ellen
- Rötzer Katharina Magdalena
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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.
- Find related publications in this database (Keywords)
- autosomal dominant
- dysmorphic facies
- GDF6 gene
- spine abnormalities computed tomography scan