[Chondrodysplasia with macrocranium and mental retardation in 2 brothers]

Abstract

Two cases of a very unusual bone dysplasia in two brothers are reported. Features included very severe dwarfism, with macrocrania and mental deficiency. Roentgenograms taken in early infancy were reminiscent of spondyloepiphyseal dysplasia congenital syndrome but the course was not suggestive of this diagnosis. The shafts of the long bones became increasingly narrow, whereas the metaphyses broadened and the epiphyses at the knee became extremely wide. Vertebral bodies were ovoid or trapezoidal. The skull was extremely large. Since two offspring of consanguineous parents were involved, this disease is certainly of genetic origin. Autosomal recessive transmission is likely, although X-linked transmission cannot be outruled.