Achondroplasia
Diagnosis certain
Citation, DOI, disclosures and case data
Citation:
Gaillard F, Achondroplasia. Case study, Radiopaedia.org (Accessed on 07 Jun 2023) https://doi.org/10.53347/rID-5867
Permalink:
rID:
5867
Disclosures:
At the time the case was submitted for publication Frank Gaillard had no recorded disclosures.
View Frank Gaillard's current disclosuresCase published:
25 Mar 2009
Revisions:
6 times, by 2 contributors - see full revision history and disclosures
Systems:
Case of the day:
31 Jul 2019
Quiz mode:
Included
Presentation
Dysmorphic.
Patient Data
Age: 2 years
Gender: Male
From the case:
Achondroplasia
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Frontal
The skull vault is enlarged, with small skull base.
There is exacerbation of the lumbar-sacral angle and the interpedicular distance gradually diminishes in the lumbar spine. The iliac wings are vertical.
The limbs demonstrate normal density with marked shortening of the long bones.
From the case:
Achondroplasia
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Axial bone window
CT images of the base of skull demonstrate marked stenosis of the foramen magnum.
Case Discussion
Characteristic features of achondroplasia.
References
- Oberklaid F, Danks DM, Jensen F et-al. Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. J. Med. Genet. 1979;16 (2): 140-6. Free text at pubmed - Pubmed citation
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