ELLIS-VAN CREVELD SYNDROME

Abstract

Two siblings with Ellis-Van Creveld disease are presented. They both had polydactyly, dystrophy of nails and teeth, and skeletal malformations characteristic of this disease. No evidence of congenital heart disease was present. The skeletal abnormalities were progressively distalward shortening of segments with characteristic bone malformations previously described in other cases, such as, curving of humeri and of some metacarpal bones; acceleration of the secondary ossification centers and retardation of the primary centers of the hand bones; increased bone age; typical abnormalities in the area of the proximal ends of the tibiae. Unilateral synmetacarpalism was present in one case. Horizontal clavicles, zones of apparent osteosclerosis intermingled with areas of radiotranslucency, mainly in the distal ends of both tibiae and fibulae, and lack of the third cuneiform bones bilaterally in one case, are believed to be new findings. Lopped ears may be incidental. The histopathologic picture found in the amputated fingers seems typical of this disease. A brief discussion of it, and a correlation with the radiologic picture is attempted. These two cases bring more evidence in favor of heredity as a factor in this disease. The mechanism of multiple genes located in different chromosomes is invoked. Three new skeletal abnormalities are presented.