Pseudoachondroplasia: A rare cause of rhizomelic dwarfism.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19753240.
- Also identified by DOI 10.4103/0019-5413.43400 and PMC identifier 2740353.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Pseudoachondroplasia is a rare rhizomelic short-limbed skeletal dysplasia. Its inheritance is varied; autosomal dominant pattern and germline or somatic mutations can occur. Children at 2-3 years of age present with short height, gait disturbances, or limb deformities. Characteristic skeletal changes include shortening of long bones, predominantly of femur and humerus with irregular, flared metaphysis and fragmented epiphysis. Platyspondyly is also present, but the interpedicular distance is normal. The diagnosis is essentially based on imaging, and thus, it is important to be aware of the radiological features. Here, we report a case of two brothers where the elder sibling had classical radiological features of pseudoachondroplasia, whereas the younger one had early changes of this disorder.