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 characteristic features distinguish this entity from the two other most commonly confused congenital short-limbed forms of dwarism--achondroplasia and achondrogenesis. The distinctions are discussed in the text.
D000130:Achondroplasia / Q000175:diagnosis; D001842:Bone and Bones / Q000473:pathology; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000151:congenital* / Q000175:diagnosis / Q000401:mortality; D006801:Humans; D007231:Infant, Newborn; D008297:Male