[Fibrochondrogenesis].
Fibrochondrogenesis is a lethal form of dwarfism similar to thanatophoric dwarfism. It is distinguished radiologically by the widening of the metaphyses of the long bones, and, on lateral x-ray of the spine, by a median fissure of the body of the vertebra without any loss of vertebral height. The condition is inherited an autosomal recessive. A study of growing cartilage confirms that this disease is a distinct entity as there is fibrosis of the cartilage which is never present in thanatophoric dwarfism or in the different forms of achondrogenesis.
D001848:Bone Diseases, Developmental / Q000175:diagnosis; D002356:Cartilage / Q000032:analysis / Q000473:pathology; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D011509:Proteoglycans / Q000032:analysis
D011509:Proteoglycans
La fibrochondrogénèse.