Torrance type of lethal neonatal short-limbed platyspondylic dwarfism.
A rare case of lethal neonatal short-limbed platyspondylic dwarfism is described. Roentgenographic features of this case, distinctly different from those of the classical thanatophoric dysplasia, are indistinguishable from the other three types of short-limbed platyspondylic dwarfism. Histologic features of the cartilage in this case are not very different from those of the Torrance type, but the presence of focal disruption of column formation in this case suggests a wider spectrum for this entity.
D001842:Bone and Bones / Q000002:abnormalities*; D002356:Cartilage / Q000473:pathology; D004392:Dwarfism / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013131:Spine / Q000002:abnormalities*