Atelosteogenesis type I
Atelosteogenesis type I
Definition
A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Also known as AO1, AOI, atelosteogenesis type 1, giant cell chondrodysplasia, spondylo-humero-femoral dysplasia — per MONDO