Dec 23, 2024 · Achondroplasia is a congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It has numerous distinctive radiographic features.

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.

Sharing radiological findings of Rickets, these imaging findings in newborns are classical features of achondroplasia, the most common type of bone dysplasia compatible with life.

Oct 22, 2022 · Achondroplasia is the most common cause of short-limb dwarfism. For a general discussion, see the generic article on achondroplasia . As the skull base forms by endochondral ossification whereas the skull vault by membranous ossification, there is a marked discrepancy in relative size as the skull vault, brain and cord grow normally whereas the ...

Horizontal acetabular roof (decreased acetabular angle), small squared (tombstone or mickey mouse ear) iliac wings and champagne glass type pelvic inlet consistent with achondroplasia.

Numerous imaging features typical of achondroplasia including shortened long bones, relatively large cranial vault with small skull base, prominent forehead with a depressed nasal bridge, tombstone iliac wings and horizontal acetabular roof, posterior vertebral body scalloping and reduced interpedicular distance in the lower lumbar spine.

Al Salam H, Achondroplasia. Case study, Radiopaedia.org (Accessed on 04 Apr 2025) https://doi.org/10.53347/rID-9294

Bilateral knee x-rays show metaphyseal flaring, giving the appearance of trumpet bone, typical of achondroplasia. The fibula heads are also at the level of tibia plateau.

There is diffuse increase in the number of skin folds in both upper and lower extremities consistent with achondroplasia. There is mild diffuse osteopenia mainly in the metaphysis most pronounced in the long bones.

Multiple x-rays of a child demonstrating characteristic features of achondroplasia.