Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.
Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long-bone metaphyses, pear-shaped vertebral bodies, and by microscopic changes of cartilage with unique interwoven fibrous septa and fibroblastic dysplasia of chondrocytes. We report the second and third well-documented cases of this apparently autosomal recessive disorder and discuss the differential diagnosis.
D002356:Cartilage / Q000473:pathology; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D006132:Growth Plate / Q000648:ultrastructure; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D011859:Radiography