The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia

A. Ornoy, G. E. Adomian, D. J. Eteson, R. E. Burgeson, D. L. Rimoin

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

Abstract

In TD, areas of severely abnormal cartilage and bone alternated with less abnormal tissue. The severely abnormal areas were always found around protrusions of abnormal mesenchymal tissue that appeared to penetrate from the investing perichondrium and periosteum. Thus a basic pathogenetic mechanism in TD may be the persistence of abnormal fetal mesenchyme, which appears to transform into the severely abnormal bone and cartilage.

Original languageEnglish
Pages (from-to)613-630
Number of pages18
JournalAmerican Journal of Medical Genetics
Volume21
Issue number4
DOIs
StatePublished - 1985
Externally publishedYes

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