Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification

We report a 25-week fetus with lethal Ellis-van Creveld syndrome who was di agnosed prenatally from the US detection of a narrow chest, postaxial polyd actyly of the hands, short acro-/mesomelic limbs and a ventricular septal d efect. The postnatal radiographic features of the skeleton confirmed the di agnosis. Literature review of the histopathology of the physeal growth plat e is contradictory, varying between retardation of the hypertrophic chondro cytes without disorganization and marked disorganization of the proliferati ng chondrocytes. We investigated numerous sites of the enchondral ossificat ion and observed retardation of the physeal growth plate in all sites and r etardation with pronounced disorganization of the physeal growth plate in t he upper mesomelic bone segments only. These data support the concept that Ellis-van Creveld syndrome is mainly a generalized disorder of the maturati on of enchondral ossification.