Atelosteogenesis

Atelosteogenesis refers to a heterogeneous group of lethal skeletal dysplasias that are characterized by aplasia/hypoplasia of the humeri, femora and spine.

Pathology

Subtypes
  • atelosteogenesis type I (boomerang dysplasia)
  • atelosteogenesis type II
  • atelosteogenesis type III