boomerang dysplasia

boomerang dysplasia

A perinatal, lethal osteochondrodysplasia (OMIM:112310) characterised by dwarfism; short, bowed, rigid limbs; characteristic facies; and defects in ossification of the long bones and vertebrae. It differs from atelosteogenesis as the mineralisation defects are more severe, with patchy absence of ossification in some bones.

The name derives from the extreme bowing of the limbs which Kozlowski et al (1981), fancifully likened to a boomerang.

Molecular pathology
Defects in FLNB, which encodes filamin B, cause boomerang dysplasia.