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  • Title: Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.
    Author: Whitley CB, Langer LO, Ophoven J, Gilbert EF, Gonzalez CH, Mammel M, Coleman M, Rosemberg S, Rodriques CJ, Sibley R.
    Journal: Am J Med Genet; 1984 Oct; 19(2):265-75. PubMed ID: 6507478.
    Abstract:
    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.
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