Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.
BACKGROUND
The craniocervical junction is a vital component in understanding the function of the human central nervous system. It is the threshold for major pathways affecting both brain and spinal cord function, and these structures are intricately housed in a network of bone, ligaments, and soft tissues. Abnormal development of any of these components may lead to altered structure, and therefore, altered function in the central nervous system.


METHODS
We herein describe a set of genetic syndromes that commonly affect the craniovertebral junction and offer clinical examples from more than 6,000 patients who have been treated for these disorders.


CONCLUSIONS
The syndromes described include Chiari type I malformation, Conradi syndrome, Goldenhar syndrome, Klippel-Feil syndrome, Larsen syndrome, Morquio syndrome, Pierre-Robin syndrome, spondyloepiphyseal dysplasia congenital and Weaver syndrome. The genetic mechanisms responsible for these disorders may offer unique insight into the developmental pathways and patterning in the musculoskeletal and cranial systems and may, ultimately, guide future diagnosis and treatment.
Menezes
Arnold H
AH
Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, 1824 JPP, Iowa, IA 52242, USA. arnold-menezes@uiowa.edu
Vogel
Timothy W
TW
D001139:Arnold-Chiari Malformation / Q000473:pathology / Q000503:physiopathology; D001268:Atlanto-Axial Joint / Q000002:abnormalities* / Q000503:physiopathology; D001269:Atlanto-Occipital Joint / Q000002:abnormalities* / Q000503:physiopathology; D001848:Bone Diseases, Developmental / Q000473:pathology / Q000503:physiopathology; D002490:Central Nervous System / Q000002:abnormalities* / Q000503:physiopathology; D002648:Child; D002806:Chondrodysplasia Punctata / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D009421:Nervous System Malformations / Q000473:pathology* / Q000503:physiopathology; D013577:Syndrome