Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

C. B. Whitley, L. O. Langer, J. Ophoven, E. F. Gilbert, C. H. Gonzalez, Mark C Mammel, M. Coleman, S. Rosemberg, C. J. Rodriques, R. Sibley

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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.

Original languageEnglish (US)
Pages (from-to)265-275
Number of pages11
JournalAmerican Journal of Medical Genetics
Volume19
Issue number2
DOIs
StatePublished - 1984

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