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Case Reports
. 1984 Oct;19(2):265-75.
doi: 10.1002/ajmg.1320190209.

Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

C B Whitley, L O Langer Jr, J Ophoven, E F Gilbert, C H Gonzalez, M Mammel, M Coleman, S Rosemberg, C J Rodriques, R Sibley, et al.
Case Reports

Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

C B Whitley et al. Am J Med Genet. 1984 Oct.

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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