Orphanet: Primary basilar invagination

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Primary basilar invagination

Disease definition

Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.

ORPHA:2285

Synonym(s):
- Bull-Nixon syndrome
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: All ages
ICD-10: Q75.8
OMIM: 109500
UMLS: C1862299
MeSH: -
GARD: 1037
MedDRA: -

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Primary basilar invagination

ORPHA:2285

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