Basilar impression, primary

Preferred Label : Basilar impression, primary;

Type : Phenotype or locus, molecular basis unknown;

Description : 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 602080), 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).;

Inheritance : Autosomal dominant;

Prefixed ID : %109500;

Details

Origin ID

109500;

UMLS CUI

C1862299;

Currated CISMeF NLP mapping
- Primary basilar invagination [ORDO Disease]
- basilar impression, primary [MeSH concept]
- basilar impression, primary [MeSH Supplementary Concept]
HPO term(s)
- Abnormal cervical myelogram [HPO term]
- Associated syringomyelia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basilar impression [HPO term]
- Craniofacial asymmetry [HPO term]
- Horner syndrome [HPO term]
- Incomplete penetrance [HPO term]
- Kyphoscoliosis [HPO term]
- Limb muscle weakness [HPO term]
- Platybasia [HPO term]
- Short neck [HPO term]
- Syringomyelia [HPO term]
- Variable expressivity [HPO term]
Manual NTBT mappings (CISMeF)
- basilar impression [Disease (Nov.)]
ORDO concept(s)
- Primary basilar invagination [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary basilar invagination [ORDO Disease]
- basilar impression, primary [MeSH Supplementary Concept]
- basilar impression, primary [MeSH concept]

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