Type:
Educational Exhibit
Keywords:
Genetic defects, Dysplasias, Congenital, Education, Conventional radiography, MR, CT, Paediatric, Musculoskeletal bone, Bones
Authors:
S. F. Miller; Memphis, TN/US
DOI:
10.1594/ecr2011/C-0026
Conclusion
Severe null sense mutations produce a phenotypically and radiographically distinct profile from partial-function mutations. Severe entities in this spectrum (Achondrogenesis type 1b and Atelosteogenesis type 2) share phenotypic and radiographic features. Gene defects resulting in partial function and hence milder disease (Diastrophic dysplasia and recessive MED) also share phenotypic and radiographic features that are distinct from the more severe defects seen in Ach 1b and AO-2. The overlap can be diagnostically challenging. It is important to recognize clinical and radiographic features of common skeletal dysplasias,
including those in the DTDST spectrum.