Fibrochondrogenesis: Radiologic and histologic studies

D. J. Eteson, G. E. Adomian, A. Ornoy, T. Koide, Y. Sugiura, A. Calabro, S. Lungarotti, P. Mastroiacovo, R. S. Lachman, D. L. Rimoin

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

Fibrochondrogenesis is a distinct, neonatally lethal, short-limb skeletal dysplasia which was first described in a single patient in 1978. We report the radiographic and morphologic studies of 2 additional unrelated stillborn infants with fibrochondrogenesis. This syndrome has distinct radiographic and chondro-osseous morphologic defects different from those seen in the other known skeletal dysplasias. The long bones are short and dumbbell-shaped with metaphyseal flare. The spine is platyspondylic with superior-inferior clefting defects, and the ribs are short and distally cupped. The growth-plate cartilage is grossly disorganized and has a densely fibrous collagenous matrix when examined by light and electron microscopy. Light, transmission, and scanning electron microscopy shows diaphyseal and metaphyseal trabecular bone to be normal.

Original languageEnglish
Pages (from-to)277-290
Number of pages14
JournalAmerican Journal of Medical Genetics
Volume19
Issue number2
DOIs
StatePublished - 1984
Externally publishedYes

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