Osteochondrodysplasia in Fryns syndrome
M. M. Kershisnik, C. M. Craven, A. L. Jung, J. C. Carey and A. S. Knisely
Department of Pathology, University of Utah Medical Center, Salt Lake City 84132.
Various skeletal abnormalities have been identified in roentgenograms of
persons with Fryns syndrome, but to our knowledge, no histopathologic
description of bone or cartilage has been published. We describe disordered
endochondral and intramembranous bone formation in a premature female
infant with Fryns syndrome. This infant and a full sibling (ie, had same
set of parents) with Fryns syndrome in addition exhibited delayed
ossification of the basiocciput and of cervical vertebral bodies, also
previously undescribed in Fryns syndrome. These findings expand the
spectrum of Fryns syndrome to include osteochondrodysplasia.
