Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

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

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23 Scopus citations

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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