Kershisnik M M, Craven C M, Jung A L, Carey J C, Knisely A S
Department of Pathology, University of Utah Medical Center, Salt Lake City 84132.
Am J Dis Child. 1991 Jun;145(6):656-60. doi: 10.1001/archpedi.1991.02160060074024.
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.
在弗林斯综合征患者的X线片上已发现各种骨骼异常，但据我们所知，尚未发表关于骨骼或软骨的组织病理学描述。我们描述了一名患有弗林斯综合征的早产女婴的软骨内成骨和膜内成骨紊乱。该婴儿以及另一名患有弗林斯综合征的同胞手足（即有相同的父母）还表现出枕骨基部和颈椎椎体的骨化延迟，这在弗林斯综合征中也是此前未被描述过的。这些发现扩展了弗林斯综合征的范围，使其包括骨软骨发育不良。
