title: Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation.
abstract: Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral malsegmentation, carpal/tarsal coalition, and a dysmorphic appearance. Differentiating SSS from other congenital scoliosis syndromes requires evaluation of the vertebrae, ribs, soft tissues, and spinal cord. The enhanced resolution over plain radiographs seen with MRI allows more detailed assessment of vertebral malformation and surrounding anatomy. Diagnosis of the underlying cause of congenital scoliosis might be enhanced using this technology. We report on a 12-year-old girl of unaffected parents with SSS who was evaluated with MRI sequences of the spine to show various types of malsegmentation. Additionally, there is the new finding of fusion of teeth, with developmental failure of a canine incisor.
authors.affiliation: Department of Medical Imaging, University of Saskatchewan, Saskatoon, S7N 0W8, Saskatchewan, Canada.
authors.forename: Magnus
authors.initials: M
authors.lastname: Breitling
authors.forename: Edmond G
authors.initials: EG
authors.lastname: Lemire
authors.forename: Michael
authors.initials: M
authors.lastname: Rabin
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D008159:Lumbar Vertebrae / Q000002:abnormalities* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D012600:Scoliosis / Q000175:diagnosis / Q000209:etiology*; D013580:Synostosis / Q000175:diagnosis* / Q000235:genetics