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Primary basilar invagination

MedGen UID:
400018
Concept ID:
C1862299
Disease or Syndrome
Synonyms: Bull Nixon syndrome; Primary basilar impression
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007188
OMIM®: 109500
Orphanet: ORPHA2285

Definition

Primary basilar impression of the skull is a developmental defect of the cranium in which there is invagination of the foramen magnum upward into the posterior cranial fossa. Basilar impression is often associated with other malformations of the notochord and craniovertebral junction, such as occipitalization of the atlas, Klippel-Feil anomaly (see 118100), Chiari type I malformation (118420), and syringomyelia (186700) (Paradis and Sax, 1972; Bhangoo and Crockard, 1999). Secondary basilar impression occurs as a result of generalized skeletal diseases, including hyperparathyroidism (see 145000), Paget disease (see 167250), and osteogenesis imperfecta (see, e.g., 166200). Platybasia refers to a skull base with an abnormally obtuse angle between the planes of the clivus and the anterior fossa. Platybasia may occur in basilar impression, but it is not of medical significance on its own (Bhangoo and Crockard, 1999). Historically, basilar impression was defined radiologically by numerous parameters, including the lines defined by Chamberlain (1939), McGregor (1948), and Fischgold and Metzger (1952), and the angle defined by Bull et al. (1955). [from OMIM]

Clinical features

From HPO
Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Horner syndrome
MedGen UID:
5616
Concept ID:
C0019937
Disease or Syndrome
An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.
Syringomyelia
MedGen UID:
21449
Concept ID:
C0039144
Disease or Syndrome
Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
Abnormal cervical myelogram
MedGen UID:
870681
Concept ID:
C4025135
Anatomical Abnormality
Platybasia
MedGen UID:
45959
Concept ID:
C0032209
Congenital Abnormality
A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Craniofacial asymmetry
MedGen UID:
870860
Concept ID:
C4025320
Anatomical Abnormality
Asymmetry of the bones of the skull and the face.
Basilar impression
MedGen UID:
1639127
Concept ID:
C4551802
Congenital Abnormality
Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary basilar invagination
Follow this link to review classifications for Primary basilar invagination in Orphanet.

Professional guidelines

PubMed

Peng X, Chen L, Wan Y, Zou X
Spine (Phila Pa 1976) 2011 Sep 1;36(19):1528-31. doi: 10.1097/BRS.0b013e3181f804ff. PMID: 21270707

Recent clinical studies

Etiology

Menezes AH
J Neurosurg 2012 Feb;116(2):301-9. Epub 2011 Nov 18 doi: 10.3171/2011.9.JNS11386. PMID: 22098202
Peng X, Chen L, Wan Y, Zou X
Spine (Phila Pa 1976) 2011 Sep 1;36(19):1528-31. doi: 10.1097/BRS.0b013e3181f804ff. PMID: 21270707

Prognosis

Peng X, Chen L, Wan Y, Zou X
Spine (Phila Pa 1976) 2011 Sep 1;36(19):1528-31. doi: 10.1097/BRS.0b013e3181f804ff. PMID: 21270707

Clinical prediction guides

Menezes AH
J Neurosurg 2012 Feb;116(2):301-9. Epub 2011 Nov 18 doi: 10.3171/2011.9.JNS11386. PMID: 22098202

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