atelosteogenesis type 1

(redirected from giant cell chondrodysplasia)

atelosteogenesis type 1

A lethal short-limb skeletal dysplasia (OMIM:108720) with vertebral defects, defective skeletal maturation, poorly modelled long bones and joint dislocations.

Molecular pathology
Defects in FLNB, which encodes filamin B, cause atelosteogenesis type 1.