Thanatophoric dysplasia.
Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short-limbs and narrow thoraxes. Histologically, generalized disruption of endochondral ossification with normal resting cartilage was seen at the epiphyseal region of femur. Differential diagnosis from other 3 types of lethal chondrodysplasia is described and the histogenesis of thanatophoric dysplasia is considered with a survey of the literature.
D000130:Achondroplasia / Q000473:pathology; D001848:Bone Diseases, Developmental / Q000473:pathology*; D001842:Bone and Bones / Q000473:pathology; D004393:Dwarfism, Pituitary / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009999:Ossification, Heterotopic / Q000473:pathology