title: Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression.
abstract: BACKGROUND
  Osteogenesis imperfecta (OI) is an inheritable disorder of bone development caused by defective collagen synthesis. The attendant basilar impression or secondary basilar invagination is uncommon but can be devastating.
  
  
  METHODS
  Fifty-two patients with osteochondrodysplasia (28 with OI, six with Hajdu-Cheney syndrome, six with Paget's disease, and 12 with spondyloepiphyseal dysplasia) with basilar impression were evaluated between 1985 and 2005. The male/female ratio in this cohort was 1:1. The mean age at presentation was 12.2 years.
  
  
  METHODS
  Symptoms and signs included headache, lower cranial nerve dysfunction, dysphagia, respiratory embarrassment, weakness, and ataxia.
  
  
  METHODS
  In the earlier part of the series (1985-1995), all patients with hydrocephalus were shunted and a ventral transoral decompression made for ventral compression of the pontomedullary junction followed by a dorsal occipitocervical fusion. As a result of this evaluation, it was felt that most patients would benefit by early bracing after the hydrocephalus was shunted if it existed. However, 20% of patients still required an anterior ventral decompression and the occipitocervical fusion.
  
  
  RESULTS
  The results showed that the fusions were stable but over a period of time, there was progressive forward bending with osteogenesis imperfecta as well as with the Hajdu-Cheney syndrome. All patients with spondyloepiphyseal dysplasia had a good strong stable fusion which stood the test of time.
  
  
  CONCLUSIONS
  In conclusion, we feel that early intervention with occipitocervical bracing can prevent the progressive march of significant basilar impression which leads to mortality.
authors.affiliation: Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, 1824 JPP, Iowa City, IA 52242, USA. arnold-menezes@uiowa.edu
authors.forename: Arnold H
authors.initials: AH
authors.lastname: Menezes
mesh_terms: D002648:Child; D019299:Decompression, Surgical / Q000009:adverse effects / Q000379:methods*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology / Q000517:prevention & control / Q000601:surgery; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000473:pathology / Q000601:surgery*; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000473:pathology / Q000601:surgery*; D010985:Platybasia / Q000209:etiology / Q000473:pathology / Q000601:surgery*; D013123:Spinal Fusion / Q000009:adverse effects / Q000379:methods*