title: Arthrogryposis multiplex congenital in a child manifesting phenotypic features resembling dysosteosclerosis/osteosclerosis malformation complex; 3DCT scan analysis of the skull base.
abstract: BACKGROUND
  A boy presented with arthrogryposis multiplex congenita (AMC) associated with severe central nervous system dysfunction. The clinical history and the distinctive radiographic/tomographic features were consistent but not completely diagnostic for dysosteosclerosis.
  
  
  METHODS
  A 5-year-old boy from a consanguineous family in Austria was born with arthrogryposis multiplex congenita in connection with central nervous system dysfunction. Recently he was referred to the orthopaedic department for further clinical assessment. Radiographic documentation showed significant sclerosis and thickening at the skull base with further extension to involve the craniocervical junction. Spinal radiographs showed platyspondyly of the thoracic vertebral bodies associated with widening of the intervertebral spaces. Long bones were not sclerotic as usually seen in the classical dysosteosclerosis phenotype. It is highly likely that long-term immobilization because of arthrogryposis multiplex congenita was the main reason behind this. 3 DCT scans showed significant hypertrophy of the clivus. The latter occupied the major space of the skull base. The overall radiographic and scanning images were compatible but not fully diagnostic with dysosteosclerosis/osteosclerosis malformation complex.
  
  
  CONCLUSIONS
  The skull base malformation complex in patients with dysosteosclerosis/osteosclerosis requires careful evaluation. 3DCT scanning of the skull base and the vertebrae could be useful tools for early recognition of the pathophysiological mechanism in patients with dysosteosclerosis/osteosclerosis/multiple contractures spectrum Previously, radiographs only have assessed the skull base pathology in patients with dysosteosclerosis, here we further characterize the pathology via 3DCT scan. Our patient illustrates extensive sclerosis of the skull base, associated with extremely hypertrophied clivus. The latter occupied the whole space of the skull base and the craniocervical junction.We review the pertinent literature, discuss the differential diagnosis and suggest that our case was consistent but not fully compatible with dysosteosclerosis. We believe that our present patient represents either a novel type of dysosteosclerosis or a variant of osteosclerosis/arthrogryposis spectrum from a consanguineous family in Austria.
authors.affiliation: Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK, Vienna, Austria. ali.alkaissi@osteologie.at.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Georg
authors.initials: G
authors.lastname: Kalchhauser
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer