title: Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins.
abstract: We report a pair of monozygotic twins with unusual facies and hypoplastic thumbs associated with progressive spinal fusion and joint immobility. The radiographic features were neither consistent with the multiple synostosis syndrome of Herrmann, nor with the spondylocarpotarsal synostosis syndrome. The overall spinal radiographic abnormalities seen in our patients were suggestive of an exceptionally early onset of Forestier disease (anterolateral, perivertebral, ligament ossification), but the thumb hypoplasia and pterygium colli are not seen in that condition. We report what might be a novel genetic entity.
authors.affiliation: Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Fourth Medical Department, Hanusch Hospital Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
authors.forename: Alexander
authors.initials: A
authors.lastname: Krebs
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
mesh_terms: D002574:Cervical Vertebrae / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004200:Diseases in Twins; D019066:Facies; D006801:Humans; D008279:Magnetic Resonance Imaging; D051346:Mobility Limitation; D010641:Phenotype; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging; D013123:Spinal Fusion; D013933:Thumb / Q000002:abnormalities*; D014430:Twins, Monozygotic