title: Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association.
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.
authors.affiliation: 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.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Katharina M
authors.initials: KM
authors.lastname: Roetzer
authors.forename: Ellen
authors.initials: E
authors.lastname: Heitzer
authors.forename: Farid
authors.initials: F
authors.lastname: Ben Chehida
authors.forename: Maher
authors.initials: M
authors.lastname: Ben Ghachem
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D055431:Growth Differentiation Factor 6 / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D011859:Radiography; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome
chemical_list: C525906:GDF6 protein, human; D055431:Growth Differentiation Factor 6