Boomerang dysplasia

[2] Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.

[2] Featured symptoms of boomerang dysplasia include: dwarfism[3] (a lethal type of infantile dwarfism caused by systemic bone deformities),[4] underossification (lack of bone formation) in the limbs, spine and ilium (pelvis);[1] proliferation of multinucleated giant-cell chondrocytes (cells that produce cartilage and play a role in skeletal development - chondrocytes of this type are rarely found in osteochondrodysplasias),[5] brachydactyly (shortened fingers) and micromelia (undersized, shortened bones).

[2] The characteristic "boomerang" malformation presents intermittently among random absences of long bones throughout the skeleton, in affected individuals.

[citation needed] Chondrocytes, which also have a role in bone development, are susceptible to these disruptions and either fail to undergo ossification, or ossify incorrectly.

[8][9] Early journal reports of boomerang dysplasia suggested X-linked recessive inheritance, based on observation and family history.