Thanatophoric Dwarfism: Two Case Reports and Survey of the Literature

Thanatophoric dwarfism is a severe form of short-limbed dwarfism in which cardiorespiratory failure uniformly results in death in the neonatal period. Its radiographic features include markedly flattened vertebral bodies with a typical U-shaped deformity, a flat squat pelvis, and short, bowed extremities with flaring and irregularity of the metaphyses. These char acteristic features distinguish this entity from the two other most commonly confused congenital short-limbed forms of dwarfism—achondroplasia and achondrogenesis. The distinctions are discussed in the text.