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FIBROCHONDROGENESIS - LETHAL, AUTOSOMAL RECESSIVE CHONDRODYSPLASIA WITH DISTINCTIVE CARTILAGE HISTOPATHOLOGY AMERICAN JOURNAL OF MEDICAL GENETICS Whitley, C. B., Langer, L. O., OPHOVEN, J., GILBERT, E. F., Gonzalez, C. H., Mammel, M., Coleman, M., Rosemberg, S., RODRIQUES, C. J., Sibley, R., Horton, W. A., Opitz, J. M., Gorlin, R. J. 1984; 19 (2): 265-275

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.

View details for Web of Science ID A1984TQ13100008

View details for PubMedID 6507478