Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

Publisher Website
Google Scholar
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 differential diagnosis.

This publication has 0 references indexed in Scilit: